rs1012129
This variant is located in the BRCA2 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
low density lipoprotein cholesterol measurement, lipid measurement
total cholesterol in medium LDL
total cholesterol in small LDL
esterified cholesterol measurement, low density lipoprotein cholesterol measurement
total lipids in small LDL
free cholesterol in medium LDL measurement
free cholesterol in small LDL measurement
sphingomyelin measurement
low density lipoprotein cholesterol measurement
▶ClinVar annotation
Breast-ovarian cancer, familial, susceptibility to, 2; not provided
View on ClinVar →About BRCA2
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]
View all BRCA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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