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rs276174889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174889(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354986
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174889
ebirs276174889
HLIrs276174889
Exacrs276174889
Varsomers276174889
Maprs276174889
PheGenIrs276174889
hapmaprs276174889
1000 genomesrs276174889
hgdprs276174889
ensemblrs276174889
gopubmedrs276174889
geneviewrs276174889
scholarrs276174889
googlers276174889
pharmgkbrs276174889
gwascentralrs276174889
openSNPrs276174889
23andMers276174889
23andMe allrs276174889
SNP Nexus

SNPshotrs276174889
SNPdbers276174889
MSV3drs276174889
GWAS Ctlgrs276174889
Max Magnitude6
rs276174889, also known as S2378X, c.7133C>G and p.Ser2378Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174889(G;G)
Alt rs276174889(G;G)
Reference rs276174889(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32929123C>G
CLNSRC ClinVar
CLNACC RCV000031667.5, RCV000045148.2, RCV000216056.1,