BRCA1

BRCA1 DNA repair associated

Summary

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]

Known Variants6,736 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7860375617:41,191,488G/A—benign
rs15035698917:41,191,835G/A—benign
rs11222297117:41,192,182C/T—benign
rs13852800517:41,193,146C/G—benign
rs1334202617:41,193,424A/T—benign
rs7861252617:41,193,639G/T—benign
rs807127817:41,193,910A/T—benign
rs722395217:41,194,885T/C—benign
rs1165902817:41,195,025T/A—benign
rs11658523917:41,195,093G/A—benign
rs817632317:41,195,711G/Cdownstream gene variantbenign
rs817632217:41,195,773A/G—benign
rs133253241517:41,196,332T/A—uncertain significance
rs128932936317:41,196,337T/C—uncertain significance
rs123373033317:41,196,359T/C—uncertain significance
rs817632017:41,196,363C/T—benign
rs18423707417:41,196,368C/T—benign
rs18938244217:41,196,372T/C—uncertain significance
rs18221856717:41,196,403A/G—uncertain significance
rs1251617:41,196,408G/A—benign
rs54827599117:41,196,409G/A—likely benign
rs75767638117:41,196,410G/T—uncertain significance
rs97546439917:41,196,414G/A—uncertain significance
rs155557403417:41,196,424A/G—conflicting classifications of pathogenicity
rs55291164317:41,196,509T/C—uncertain significance
rs74618709217:41,196,556C/T—uncertain significance
rs11179134917:41,196,582C/T—benign
rs94064213217:41,196,609T/G—uncertain significance
rs95402574117:41,196,741T/G—uncertain significance
rs53556380317:41,196,762C/T——
rs75855634217:41,196,767G/A—uncertain significance
rs205080421217:41,196,836T/G—uncertain significance
rs155557413617:41,196,895A/G—uncertain significance
rs817631917:41,196,914G/A—benign
rs13878202317:41,196,945T/C—likely benign
rs88605297117:41,196,952C/A—uncertain significance
rs97560134317:41,196,974C/T—likely benign
rs77311977817:41,196,982G/A—uncertain significance
rs54003158217:41,197,002G/A—uncertain significance
rs95294171817:41,197,010G/C—uncertain significance
rs205081560317:41,197,012G/C—uncertain significance
rs93715865917:41,197,100C/T—uncertain significance
rs215236756717:41,197,147C/G—uncertain significance
rs53092975617:41,197,159T/C—likely benign
rs106050455617:41,197,167C/G—conflicting classifications of pathogenicity
rs52772574017:41,197,210C/T—uncertain significance
rs215238089517:41,197,213A/C—uncertain significance
rs88605297217:41,197,230C/T—uncertain significance
rs39750725517:41,197,232———
rs817631817:41,197,274C/Adownstream gene variantbenign
rs88605297317:41,197,308A/C—uncertain significance
rs205083678317:41,197,386A/G—uncertain significance
rs133675968017:41,197,389G/C—uncertain significance
rs87885492817:41,197,404G/A—likely benign
rs817631717:41,197,423T/C—uncertain significance
rs102719465717:41,197,430C/T—uncertain significance
rs5610854017:41,197,467T/C—benign
rs74829911117:41,197,509C/T—uncertain significance
rs254562915217:41,197,559G/C—uncertain significance
rs77661084117:41,197,569A/C—uncertain significance
rs18944218317:41,197,589G/C—benign
rs91435458517:41,197,590A/G—likely benign
rs76264142617:41,197,591C/T—likely benign
rs13789286117:41,197,637G/A—conflicting classifications of pathogenicity
rs27390277717:41,197,653A/T—uncertain significance
rs77793896817:41,197,656C/T—likely benign
rs309299517:41,197,659G/C—benign
rs134638476217:41,197,673C/G—likely benign
rs37504281517:41,197,675G/A—likely benign
rs106479614217:41,197,681G/C—uncertain significance
rs76255202717:41,197,682T/C—uncertain significance
rs205085176717:41,197,688G/C—uncertain significance
rs105752024617:41,197,691G/A—conflicting classifications of pathogenicity
rs105752152517:41,197,692C/A—likely benign
rs58778209717:41,197,694G/A—likely benign
rs215247696817:41,197,695T/C—uncertain significance
rs205085239917:41,197,696C/T—likely benign
rs215247871617:41,197,697A/T—uncertain significance
rs156775624217:41,197,699T/C—conflicting classifications of pathogenicity
rs76374062317:41,197,700A/C—conflicting classifications of pathogenicity
rs77412730417:41,197,701G/C—uncertain significance
rs8035718317:41,197,702T/C—uncertain significance
rs76158544817:41,197,703G/A—uncertain significance
rs215248315717:41,197,704G/T—uncertain significance
rs215248383717:41,197,705C/T—uncertain significance
rs159779650717:41,197,707G/C—conflicting classifications of pathogenicity
rs20119602017:41,197,708T/G—benign
rs254581927517:41,197,709G/T—uncertain significance
rs215248754917:41,197,710G/A—likely benign
rs8035732217:41,197,711G/A—uncertain significance
rs155557434217:41,197,712G/A—conflicting classifications of pathogenicity
rs87665994117:41,197,713G/C—conflicting classifications of pathogenicity
rs75542780917:41,197,714A/G—conflicting classifications of pathogenicity
rs76565695717:41,197,715T/A—uncertain significance
rs2889769917:41,197,716C/G—uncertain significance
rs87665999417:41,197,719G/T—likely benign
rs205085721217:41,197,720G/A—uncertain significance
rs8035727417:41,197,721G/T—conflicting classifications of pathogenicity
rs75844908817:41,197,722T/A—uncertain significance
rs8035988317:41,197,723——pathogenic

Showing 100 of 6,736 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.