question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32362663, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATA... | CCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATA... | pathogenic | 212,532 |
Regarding the variant found on chromosome 13 at position 32362665 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGA... | CAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGA... | pathogenic | 212,534 |
For chromosome 13, position 32362668, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTT... | AGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTT... | pathogenic | 212,535 |
Is the genetic mutation found on chromosome 13 at position 32362672, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTAT... | CTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTAT... | pathogenic | 212,537 |
A genetic alteration at chromosome 13, position 32362674, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGT... | GGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGT... | pathogenic | 212,538 |
Does the variant on chromosome 13 at location 32362679 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTA... | TACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGGATAGAGTTGTATGTAACTA... | pathogenic | 212,540 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32363176: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAG... | GATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAG... | pathogenic | 212,569 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32363176: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAG... | GATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAG... | pathogenic | 212,570 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32363177, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGT... | ATGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGT... | pathogenic | 212,572 |
Chromosome 13, position 32363178, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTT... | TGGACTTGAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTT... | pathogenic | 212,576 |
Variant at chromosome 13, position 32363185, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAA... | GAAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAA... | pathogenic | 212,581 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32363186: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAA... | AAGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAA... | pathogenic | 212,582 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32363187, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAG... | AGGCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAG... | pathogenic | 212,583 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32363189 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAA... | GCCATGAAAAAGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAA... | pathogenic | 212,587 |
Evaluate if the mutation on chromosome 13 at position 32363199 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAG... | AGAGACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAG... | pathogenic | 212,595 |
Does the chromosome 13 mutation at position 32363203 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGAC... | ACTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGAC... | pathogenic | 212,596 |
Classify the chromosome 13 variant at position 32363204 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACA... | CTGAGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACA... | pathogenic | 212,599 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32363207—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTG... | AGAAAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTG... | pathogenic | 212,601 |
For chromosome 13, position 32363210, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTT... | AAGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTT... | pathogenic | 212,602 |
Regarding the variant found on chromosome 13 at position 32363211 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTG... | AGAGCAGCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTG... | pathogenic | 212,605 |
Clinically, how would you classify the variant at chromosome 13, position 32363217, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | pathogenic | 212,608 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32363217, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | pathogenic | 212,609 |
Variant on chromosome 13, at position 32363217, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | GCCAGAAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGG... | pathogenic | 212,610 |
Is the chromosome 13, position 32363222 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTA... | AAAGTTAGGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTA... | pathogenic | 212,611 |
Does the chromosome 13 mutation at position 32363229 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAA... | GGAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAA... | pathogenic | 212,614 |
Variant chromosome 13, position 32363230, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAA... | GAATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAA... | pathogenic | 212,615 |
Clinically, how would you classify the variant at chromosome 13, position 32363231, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAG... | AATAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAG... | pathogenic | 212,617 |
A mutation at chromosome position 32363233 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAG... | TAAATGCAGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAG... | pathogenic | 212,618 |
Variant at chromosome 13, position 32363240, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGT... | AGAATGGGGTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGT... | pathogenic | 212,620 |
Chromosome 13, position 32363248, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTT... | GTGTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTT... | pathogenic | 212,621 |
A genetic alteration at chromosome 13, position 32363250, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | pathogenic | 212,622 |
Mutation at chromosome 13, position 32363250, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | pathogenic | 212,623 |
A mutation at chromosome position 32363250 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | GTTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGT... | pathogenic | 212,624 |
Clinical classification of chromosome 13, position 32363251, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTT... | TTGCATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTT... | pathogenic | 212,625 |
Variant on chromosome 13, at position 32363254, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTA... | CATTCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTA... | pathogenic | 212,626 |
Chromosome 13, position 32363257, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGG... | TCCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGG... | pathogenic | 212,629 |
Variant chromosome 13, position 32363258, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGT... | CCAAATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGT... | pathogenic | 212,630 |
Is chromosome 13, position 32363262, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAA... | ATGAAGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAA... | pathogenic | 212,633 |
Is the variant located on chromosome 13 at position 32363266, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAA... | AGATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAA... | pathogenic | 212,637 |
Evaluate this variant at chromosome 13, position 32363268, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAAC... | ATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAAC... | pathogenic | 212,638 |
Clinical significance of chromosome 13, position 32363268, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAAC... | ATGGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAAC... | pathogenic | 212,639 |
A genetic alteration at chromosome 13, position 32363270, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCG... | GGAATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCG... | pathogenic | 212,641 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32363272—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTT... | AATTTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTT... | pathogenic | 212,643 |
Classify the chromosome 13 variant at position 32363275 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCT... | TTTAGGGAATAGAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCT... | pathogenic | 212,644 |
Evaluate if the mutation on chromosome 13 at position 32363286 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTC... | GAAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTC... | pathogenic | 212,646 |
Considering the variant on chromosome 13, location 32363287, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCA... | AAAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCA... | pathogenic | 212,648 |
Is chromosome 13, position 32363288, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCAC... | AAATGACCAGCTGTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCAC... | pathogenic | 212,650 |
Is the genetic change at chromosome 13, position 32363300, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAG... | GTGGAAGCTGCTTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAG... | pathogenic | 212,654 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32363311—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAA... | TTCTAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAA... | pathogenic | 212,656 |
Regarding the variant at chromosome 13 and position 32363314, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATT... | TAATAGGTAAAGTAAGATGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATT... | pathogenic | 212,657 |
Does the variant on chromosome 13 at location 32363331 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAG... | TGAGGACTGAGATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAG... | pathogenic | 212,662 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32363342, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTT... | ATTGGCCGCTGGATTTAGCACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTT... | pathogenic | 212,666 |
The genetic variant at chromosome 13, position 32363360, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGT... | CACTGCAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGT... | pathogenic | 212,674 |
Evaluate this variant at chromosome 13, position 32363365, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCA... | CAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCA... | pathogenic | 212,676 |
Clinically, how would you classify the variant at chromosome 13, position 32363365, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCA... | CAGAAGACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCA... | pathogenic | 212,677 |
Evaluate if the mutation on chromosome 13 at position 32363370 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAG... | GACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAG... | pathogenic | 212,683 |
A mutation at chromosome position 32363371 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGG... | ACATTACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGG... | pathogenic | 212,687 |
Is the variant located on chromosome 13 at position 32363376, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | ACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAG... | ACTAATGTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAG... | pathogenic | 212,690 |
Benign or pathogenic: chromosome 13, position 32363382, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTA... | GTTATTAAAAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTA... | pathogenic | 212,695 |
Chromosome 13, position 32363390, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAA... | AAATAGCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAA... | pathogenic | 212,700 |
Does the variant on chromosome 13 at location 32363395 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGT... | GCTCAATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGT... | pathogenic | 212,703 |
For chromosome 13, position 32363400, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAG... | ATAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAG... | pathogenic | 212,707 |
Determine whether the variant at chromosome 13, position 32363401, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGA... | TAGATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGA... | pathogenic | 212,708 |
Determine if the mutation at chromosome 13, position 32363404 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | pathogenic | 212,709 |
A genetic alteration at chromosome 13, position 32363404, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm'] | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | pathogenic | 212,710 |
Mutation found at chromosome 13 position 32363404, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | ATTGGTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGG... | pathogenic | 212,711 |
Does the chromosome 13 mutation at position 32363408 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAA... | GTGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAA... | pathogenic | 212,714 |
A mutation at chromosome position 32363409 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAG... | TGGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAG... | pathogenic | 212,715 |
Is the genetic variant on chromosome 13, position 32363410, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGT... | GGAGTGATATCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGT... | pathogenic | 212,717 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32363419, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATG... | TCCTGATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATG... | pathogenic | 212,721 |
Does the variant on chromosome 13 at location 32363424 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGAT... | ATTAGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGAT... | pathogenic | 212,724 |
Evaluate this variant at chromosome 13, position 32363427, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | AGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCT... | AGAATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCT... | pathogenic | 212,725 |
Is the variant located on chromosome 13 at position 32363429, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTG... | AATGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTG... | pathogenic | 212,726 |
Determine whether the variant at chromosome 13, position 32363431, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGA... | TGCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGA... | pathogenic | 212,727 |
A genetic variant on chromosome 13, position 32363432, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAA... | GCAATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAA... | pathogenic | 212,729 |
Is the genetic change at chromosome 13, position 32363435, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAG... | ATTAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAG... | pathogenic | 212,730 |
Variant on chromosome 13, at position 32363437, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGG... | TAAAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGG... | pathogenic | 212,731 |
A genetic alteration at chromosome 13, position 32363439, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCA... | AAGAGCAGTTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCA... | pathogenic | 212,732 |
Is the chromosome 13, position 32363447 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Diffuse_midline_glioma,_H3_K27-altered', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAG... | TTGAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAG... | pathogenic | 212,737 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32363449: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGG... | GAAGAGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGG... | pathogenic | 212,739 |
Is the genetic mutation found on chromosome 13 at position 32363453, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATAC... | AGGAGGAATTGGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATAC... | pathogenic | 212,740 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32363463: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTG... | GGAGACACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTG... | pathogenic | 212,742 |
Clinical significance of chromosome 13, position 32363469, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGA... | ACAGAATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGA... | pathogenic | 212,746 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32363474, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGAT... | ATACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGAT... | pathogenic | 212,748 |
A genetic variant on chromosome 13, position 32363475, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATA... | TACAGTCGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATA... | pathogenic | 212,749 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32363481—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGG... | CGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGG... | pathogenic | 212,751 |
Evaluate this variant at chromosome 13, position 32363481, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGG... | CGATTCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGG... | pathogenic | 212,752 |
Clinical significance of chromosome 13, position 32363485, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGG... | TCTTTTGGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGG... | pathogenic | 212,755 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32363491, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTA... | GGGAGTTGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTA... | pathogenic | 212,757 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32363497—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAG... | TGCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAG... | pathogenic | 212,760 |
Assess the variant on chromosome 13, position 32363498, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-pred... | GCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGT... | GCCAAAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGT... | pathogenic | 212,761 |
Is the genetic change at chromosome 13, position 32363502, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTC... | AAAAGAAGCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTC... | pathogenic | 212,763 |
A mutation at chromosome position 32363509 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGAT... | GCAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGAT... | pathogenic | 212,766 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32363510: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATT... | CAGAGAGAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATT... | pathogenic | 212,768 |
The genetic variant at chromosome 13, position 32363516, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCT... | GAGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCT... | pathogenic | 212,770 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32363517 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTG... | AGGGACATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTG... | pathogenic | 212,771 |
The genetic variant at chromosome 13, position 32363522, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTC... | CATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTC... | pathogenic | 212,773 |
Determine if the mutation at chromosome 13, position 32363523 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCT... | ATTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCT... | pathogenic | 212,774 |
Determine whether the variant at chromosome 13, position 32363524, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTT... | TTGCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTT... | pathogenic | 212,775 |
Is the genetic mutation found on chromosome 13 at position 32363526, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAG... | GCTTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAG... | pathogenic | 212,776 |
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