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rs80359102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs80359102(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370972
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359102
dbSNP (classic)rs80359102
ClinGenrs80359102
ebirs80359102
HLIrs80359102
Exacrs80359102
Gnomadrs80359102
Varsomers80359102
LitVarrs80359102
Maprs80359102
PheGenIrs80359102
Biobankrs80359102
1000 genomesrs80359102
hgdprs80359102
ensemblrs80359102
geneviewrs80359102
scholarrs80359102
googlers80359102
pharmgkbrs80359102
gwascentralrs80359102
openSNPrs80359102
23andMers80359102
SNPshotrs80359102
SNPdbers80359102
MSV3drs80359102
GWAS Ctlgrs80359102
Max Magnitude6

rs80359102, also known as S2835X, c.8504C>A and p.Ser2835Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359102(A;A) rs80359102(G;G)
Alt rs80359102(A;A) rs80359102(G;G)
Reference Rs80359102(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32945109C>A; NC_000013.10:g.32945109C>G
CLNSRC ClinVar
CLNACC RCV000045541.2, RCV000113951.3, RCV000256554.2,