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rs276174876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174876(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341070
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174876
ebirs276174876
HLIrs276174876
Exacrs276174876
Varsomers276174876
Maprs276174876
PheGenIrs276174876
hapmaprs276174876
1000 genomesrs276174876
hgdprs276174876
ensemblrs276174876
gopubmedrs276174876
geneviewrs276174876
scholarrs276174876
googlers276174876
pharmgkbrs276174876
gwascentralrs276174876
openSNPrs276174876
23andMers276174876
23andMe allrs276174876
SNP Nexus

SNPshotrs276174876
SNPdbers276174876
MSV3drs276174876
GWAS Ctlgrs276174876
Max Magnitude6
rs276174876, also known as E2239X, c.6715G>T and p.Glu2239Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174876(T;T)
Alt rs276174876(T;T)
Reference rs276174876(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915207G>A; NC_000013.10:g.32915207G>T
CLNSRC ClinVar
CLNACC RCV000221713.1, RCV000045029.2, RCV000113633.1,