BRCA1 Chromosome 17

BRCA1 DNA repair associated
5374 variants 5374 Health Risk

Upload your DNA to see your personal genotypes for variants in BRCA1.

What This Gene Does
This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"Ring finger proteins|FA complementation groups|Protein phosphatase 1 regulatory subunits|BRCA1 A complex|BRCA1 B complex|BRCA1 C complex"
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000012048
Associated Conditions (66)
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder
Breast-ovarian cancer
familial
susceptibility to
1
Fanconi anemia
complementation group S
Familial cancer of breast
Pancreatic cancer
4
BRCA1-related cancer predisposition
Hereditary cancer
Breast and/or ovarian cancer
Breast cancer
Inherited breast cancer and ovarian cancer
2
Familial pancreatic carcinoma
+46 more conditions
Key Variants
RS1011096937
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
Health Risk
RS1015073230
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1022076404
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, BRCA1-related disorder
Health Risk
RS1029207537
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1036328075
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1038244014
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1050289746
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1055368753
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1057519249
Conflicting classifications of pathogenicity
Breast-ovarian cancer, familial, susceptibility to
Health Risk
RS1057519495
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
Health Risk
RS1057519496
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1057520246
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (5374)
RSID Category Clinical Significance Conditions
RS80357525 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357526 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357527 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357528 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357529 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357530 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357531 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357532 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357533 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357534 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357535 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357536 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357538 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357540 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS80357541 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357542 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357543 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357544 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357545 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357546 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357547 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357548 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357549 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357550 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357551 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357552 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357553 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357554 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357555 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357556 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357557 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357558 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357559 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS80357560 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357561 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357562 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357564 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357565 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357566 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357567 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357568 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357570 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357571 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357572 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS80357573 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357574 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357575 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357576 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357577 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS80357578 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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