BRCA2

BRCA2 DNA repair associated

Summary

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]

Known Variants10,106 total

rsidPosition (GRCh37)AllelesClassClinVar
rs798890113:32,889,080A/G—benign
rs14806083213:32,889,349G/A—benign
rs309298913:32,889,363A/G—benign
rs3622175113:32,889,437G/A—benign
rs55188785013:32,889,492A/G—uncertain significance
rs57054839813:32,889,534C/T—uncertain significance
rs56397190013:32,889,548C/T—likely benign
rs103687083513:32,889,624G/T—conflicting classifications of pathogenicity
rs88605011113:32,889,634A/G—uncertain significance
rs102627372513:32,889,644C/G—likely benign
rs37072150613:32,889,647A/C—likely benign
rs155527993213:32,889,648G/A—uncertain significance
rs55617221813:32,889,656C/T—conflicting classifications of pathogenicity
rs5588020213:32,889,669C/T—benign
rs159387967713:32,889,670T/G—likely benign
rs56711069213:32,889,682G/A—benign
rs254850869513:32,889,692T/C—uncertain significance
rs145320011213:32,889,701C/T—uncertain significance
rs213869530913:32,889,719G/C—uncertain significance
rs5564181513:32,889,721G/T—likely benign
rs91723275913:32,889,756G/T—uncertain significance
rs105752279313:32,889,784A/G—conflicting classifications of pathogenicity
rs254850884413:32,889,785G/C—uncertain significance
rs159387980113:32,889,787A/G—uncertain significance
rs155527995813:32,889,788C/A—conflicting classifications of pathogenicity
rs213869562813:32,889,789T/C—likely benign
rs120944344613:32,889,790G/A—uncertain significance
rs207224874613:32,889,791C/T—uncertain significance
rs20611813:32,889,792A/C—uncertain significance
rs105752184113:32,889,793C/T—conflicting classifications of pathogenicity
rs213869567613:32,889,794C/A—likely benign
rs254850886613:32,889,796C/G—uncertain significance
rs213869568413:32,889,799G/T—uncertain significance
rs213869568613:32,889,801G/A—uncertain significance
rs53635430713:32,889,802C/T—uncertain significance
rs87925531213:32,889,803G/A—conflicting classifications of pathogenicity
rs155527996713:32,889,804G/C—uncertain significance
rs207224909613:32,889,805G/A—likely pathogenic
rs159387984513:32,889,806T/A—likely pathogenic
rs213869572913:32,889,807T/C—likely benign
rs142919350613:32,889,808A/G—uncertain significance
rs93082541913:32,889,809G/T—uncertain significance
rs213869575013:32,889,810T/A—uncertain significance
rs155527996913:32,889,811G/T—conflicting classifications of pathogenicity
rs213869576413:32,889,812G/A—likely benign
rs254850890213:32,889,814G/T—likely benign
rs132190546313:32,889,815G/A—likely benign
rs159387985713:32,889,817G/A—likely benign
rs213869578813:32,889,818G/T—likely benign
rs159387986313:32,889,819T/C—uncertain significance
rs207224942513:32,889,820A/G—likely benign
rs213869580613:32,889,821G/C—uncertain significance
rs213869582013:32,889,824G/T—likely benign
rs20611913:32,889,968G/A—benign
rs1157157213:32,889,996C/T—benign
rs956260513:32,890,026T/C—benign
rs11579718213:32,890,164G/A—benign
rs956755213:32,890,227G/Tregulatory region variantbenign
rs213869735013:32,890,504C/T—likely benign
rs18399750613:32,890,523C/G—likely benign
rs156621444713:32,890,533G/A—benign
rs39750726013:32,890,539T/C—likely benign
rs207225919213:32,890,542G/A—likely benign
rs27617479913:32,890,543G/A—likely benign
rs159388047713:32,890,544T/G—likely benign
rs39812272113:32,890,545C/T—likely benign
rs156621445213:32,890,546T/G—uncertain significance
rs159388048413:32,890,547T/C—likely benign
rs116026871413:32,890,548C/T—uncertain significance
rs77719034513:32,890,549T/C—likely benign
rs213869759713:32,890,550G/C—likely benign
rs126806607513:32,890,551T/C—conflicting classifications of pathogenicity
rs27617480113:32,890,552T/C—likely benign
rs75988898013:32,890,553T/C—likely benign
rs207225950813:32,890,554T/G—uncertain significance
rs76564410913:32,890,555G/A—likely benign
rs54535502513:32,890,556C/T—likely benign
rs155528005313:32,890,557A/G—pathogenic
rs106049956613:32,890,558G/C—pathogenic
rs207225969913:32,890,560C/T—uncertain significance
rs213869769013:32,890,561T/C—uncertain significance
rs132723226013:32,890,562T/C—uncertain significance
rs213869770313:32,890,563A/G—uncertain significance
rs27617479713:32,890,564T/C—likely benign
rs39750756613:32,890,565T/C—uncertain significance
rs77594527913:32,890,568C/T—likely benign
rs127024621513:32,890,569C/G—uncertain significance
rs76461819013:32,890,571A/G—uncertain significance
rs179994313:32,890,572G/C—benign
rs75174125213:32,890,574A/G—likely benign
rs75734912213:32,890,575T/A—uncertain significance
rs213869779013:32,890,577G/A—uncertain significance
rs213869779713:32,890,578G/A—likely benign
rs159388055513:32,890,580G/C—uncertain significance
rs127346231513:32,890,581G/C—likely benign
rs213869782113:32,890,582A/T—uncertain significance
rs13870520213:32,890,583A/T—conflicting classifications of pathogenicity
rs27617479613:32,890,584T/C—conflicting classifications of pathogenicity
rs213869784113:32,890,585A/G—conflicting classifications of pathogenicity
rs27617479513:32,890,586T/C—conflicting classifications of pathogenicity

Showing 100 of 10,106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

BRCA2 — BRCA2 DNA repair associated — genewizard.net