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
RS273899689 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899692 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899695 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS273899696 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899700 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899701 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899703 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899705 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899706 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899707 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273899709 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900710 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900714 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900717 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900718 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900721 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900724 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900728 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900730 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900731 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273900736 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273901744 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273901746 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial
RS273901751 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273901753 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS273901765 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273902769 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273902775 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273902778 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273902791 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273903793 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS273903794 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS28897686 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS28897689 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS34570933 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer, familial
RS34725869 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS372047427 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial
RS386134270 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS387906563 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507180 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507181 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507182 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507183 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507192 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507193 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507194 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507195 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507198 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507200 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
RS397507205 Health Risk Pathogenic Breast-ovarian cancer, familial, susceptibility to
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