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rs80359068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359068(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332296
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359068
ebirs80359068
HLIrs80359068
Exacrs80359068
Varsomers80359068
Maprs80359068
PheGenIrs80359068
hapmaprs80359068
1000 genomesrs80359068
hgdprs80359068
ensemblrs80359068
gopubmedrs80359068
geneviewrs80359068
scholarrs80359068
googlers80359068
pharmgkbrs80359068
gwascentralrs80359068
openSNPrs80359068
23andMers80359068
23andMe allrs80359068
SNP Nexus

SNPshotrs80359068
SNPdbers80359068
MSV3drs80359068
GWAS Ctlgrs80359068
Max Magnitude6
rs80359068, also known as S273X, c.818C>G and p.Ser273Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359068(A,G,T;A,G,T)
Alt rs80359068(A,G,T;A,G,T)
Reference rs80359068(C;C)
Significance Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906433C>A; NC_000013.10:g.32906433C>G
CLNSRC ClinVar
CLNACC RCV000045447.2, RCV000219107.1, RCV000239330.1, RCV000045448.2, RCV000112854.1,