ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_23400
Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Familial cancer of breast
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23401
Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Nasopharyngeal carcinoma
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23402
A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Li-Fraumeni syndrome 1
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23403
A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Basal cell carcinoma, susceptibility to, 7
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23404
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Bone marrow failure syndrome 5
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23405
Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance.
Pathogenic; Hereditary cancer-predisposing syndrome
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23406
Gene TP53 (tumor protein p53) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Li-Fraumeni syndrome 1
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23407
Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Li-Fraumeni syndrome
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23408
Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Neoplasm
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23409
Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Li-Fraumeni syndrome 1
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23410
A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Li-Fraumeni syndrome
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23411
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hereditary cancer-predisposing syndrome
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23412
This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Li-Fraumeni syndrome
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23413
Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Neoplasm
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAG...
Task1_train_23414
This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Adrenocortical carcinoma, hereditary
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23415
A variant on Chromosome 17 in gene TP53 (tumor protein p53) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Familial cancer of breast
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23416
This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Bone marrow failure syndrome 5
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23417
This alteration in TP53 (tumor protein p53) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Basal cell carcinoma, susceptibility to, 7
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23418
A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Glioma susceptibility 1
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23419
A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hepatocellular carcinoma
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23420
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Colorectal cancer
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23421
This mutation is located in gene TP53 (tumor protein p53) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Nasopharyngeal carcinoma
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23422
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Li-Fraumeni syndrome 1
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23423
This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Carcinoma of pancreas
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23424
Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Choroid plexus papilloma
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23425
Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Bone osteosarcoma
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23426
This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Li-Fraumeni syndrome
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23427
Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23428
Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Li-Fraumeni syndrome 1
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23429
Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance.
Pathogenic; Neoplasm
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23430
This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Li-Fraumeni syndrome
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23431
Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Li-Fraumeni syndrome 1
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23432
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hereditary cancer-predisposing syndrome
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
AGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGA...
Task1_train_23433
This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Li-Fraumeni syndrome 1
TGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTG...
TGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTG...
Task1_train_23434
This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Neoplasm
TGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTG...
TGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTG...
Task1_train_23435
A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hereditary cancer-predisposing syndrome
TGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTC...
TGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTC...
Task1_train_23436
With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Hereditary cancer-predisposing syndrome
GTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAA...
GTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAA...
Task1_train_23437
Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Adrenocortical carcinoma, hereditary
GTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAA...
GTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAA...
Task1_train_23438
Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Li-Fraumeni syndrome 1
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23439
Gene TP53 (tumor protein p53) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Li-Fraumeni syndrome
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23440
Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hereditary cancer-predisposing syndrome
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23441
A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Li-Fraumeni syndrome 1
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23442
The gene TP53 (tumor protein p53) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Hereditary cancer-predisposing syndrome
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23443
Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Li-Fraumeni syndrome
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23444
A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Adrenocortical carcinoma, hereditary
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23445
The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Neoplasm
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
GGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATA...
Task1_train_23446
Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23447
Gene TP53 (tumor protein p53) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Li-Fraumeni syndrome
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23448
A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Li-Fraumeni syndrome 1
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23449
A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hereditary cancer-predisposing syndrome
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23450
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Li-Fraumeni syndrome
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23451
A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Li-Fraumeni syndrome 1
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
GGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTT...
Task1_train_23452
This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Li-Fraumeni syndrome 1
ATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGG...
ATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGG...
Task1_train_23453
The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hereditary cancer-predisposing syndrome
ATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGG...
ATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGG...
Task1_train_23454
This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Li-Fraumeni syndrome
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
Task1_train_23455
A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Li-Fraumeni syndrome
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
Task1_train_23456
Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Neoplasm
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
ACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAG...
Task1_train_23457
The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Li-Fraumeni syndrome
CATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGG...
CATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGG...
Task1_train_23458
This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Neoplasm
CATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGG...
CATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGG...
Task1_train_23459
Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Li-Fraumeni syndrome 1
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
Task1_train_23460
This alteration in TP53 (tumor protein p53) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Li-Fraumeni syndrome
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
Task1_train_23461
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Hereditary cancer-predisposing syndrome
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
CAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGAT...
Task1_train_23462
A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Adrenocortical carcinoma, hereditary
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
Task1_train_23463
This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
Pathogenic; Li-Fraumeni syndrome
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
Task1_train_23464
Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Li-Fraumeni syndrome 1
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
Task1_train_23465
Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Hereditary cancer-predisposing syndrome
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
Task1_train_23466
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Neoplasm
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
GAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGG...
Task1_train_23467
A mutation on Chromosome 17 affecting TP53 (tumor protein p53) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hereditary cancer-predisposing syndrome
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
Task1_train_23468
Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Li-Fraumeni syndrome
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
Task1_train_23469
Gene TP53 (tumor protein p53), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Li-Fraumeni syndrome 1
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
Task1_train_23470
This alteration occurs within gene TP53 (tumor protein p53) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Neoplasm
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
Task1_train_23471
A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Li-Fraumeni syndrome
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
AAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGA...
Task1_train_23472
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hereditary cancer-predisposing syndrome
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23473
This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Li-Fraumeni syndrome
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23474
With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Li-Fraumeni syndrome 1
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23475
A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Li-Fraumeni syndrome 1
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23476
This alteration occurs within gene TP53 (tumor protein p53) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Li-Fraumeni syndrome
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23477
Gene TP53 (tumor protein p53) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Hereditary cancer-predisposing syndrome
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23478
This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Neoplasm
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
GTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGC...
Task1_train_23479
A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Adrenocortical carcinoma, hereditary
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
Task1_train_23480
This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Li-Fraumeni syndrome
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
Task1_train_23481
A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Li-Fraumeni syndrome 1
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
Task1_train_23482
Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hereditary cancer-predisposing syndrome
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
Task1_train_23483
This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Neoplasm
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
TTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCC...
Task1_train_23484
Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Familial cancer of breast
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
Task1_train_23485
Assess the clinical impact of this variant on gene TP53 (tumor protein p53), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Li-Fraumeni syndrome
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
Task1_train_23486
A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Hereditary cancer-predisposing syndrome
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
Task1_train_23487
With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Li-Fraumeni syndrome 1
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
GACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGA...
Task1_train_23488
A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Li-Fraumeni syndrome 1
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
Task1_train_23489
This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary cancer-predisposing syndrome
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
Task1_train_23490
This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Li-Fraumeni syndrome
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
Task1_train_23491
Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Neoplasm
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
CAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGT...
Task1_train_23492
The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Li-Fraumeni syndrome 1
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
Task1_train_23493
This gene mutation involves TP53 (tumor protein p53) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
Pathogenic; Li-Fraumeni syndrome
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
Task1_train_23494
This sequence variant lies in TP53 (tumor protein p53) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hereditary cancer-predisposing syndrome
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTG...
Task1_train_23495
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Acute myeloid leukemia
CCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGA...
CCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGA...
Task1_train_23496
Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Hereditary cancer-predisposing syndrome
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
Task1_train_23497
This sequence change occurs on Chromosome 17, altering TP53 (tumor protein p53). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Li-Fraumeni syndrome
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
Task1_train_23498
The gene TP53 (tumor protein p53) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Li-Fraumeni syndrome 1
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
Task1_train_23499
This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Li-Fraumeni syndrome
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...
AACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCA...