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rs81002874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs81002874(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363178
GeneBRCA2
is asnp
is mentioned by
dbSNPrs81002874
ebirs81002874
HLIrs81002874
Exacrs81002874
Varsomers81002874
Maprs81002874
PheGenIrs81002874
hapmaprs81002874
1000 genomesrs81002874
hgdprs81002874
ensemblrs81002874
gopubmedrs81002874
geneviewrs81002874
scholarrs81002874
googlers81002874
pharmgkbrs81002874
gwascentralrs81002874
openSNPrs81002874
23andMers81002874
23andMe allrs81002874
SNP Nexus

SNPshotrs81002874
SNPdbers81002874
MSV3drs81002874
GWAS Ctlgrs81002874
Max Magnitude6

rs81002874, known as both c.7977-1G>T and c.7977-1G>C, is a rare mutation in the BRCA2 gene.

Both minor alleles are considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs81002874(C,T;C,T)
Alt rs81002874(C,T;C,T)
Reference rs81002874(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937315G>C; NC_000013.10:g.32937315G>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031714.5, RCV000045368.4, RCV000162588.1, RCV000113850.1, RCV000197791.1,