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rs80358951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358951(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355094
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358951
ebirs80358951
HLIrs80358951
Exacrs80358951
Varsomers80358951
Maprs80358951
PheGenIrs80358951
hapmaprs80358951
1000 genomesrs80358951
hgdprs80358951
ensemblrs80358951
gopubmedrs80358951
geneviewrs80358951
scholarrs80358951
googlers80358951
pharmgkbrs80358951
gwascentralrs80358951
openSNPrs80358951
23andMers80358951
23andMe allrs80358951
SNP Nexus

SNPshotrs80358951
SNPdbers80358951
MSV3drs80358951
GWAS Ctlgrs80358951
Max Magnitude6
rs80358951, also known as S2414X, c.7241C>G and p.Ser2414Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358951(G,T;G,T)
Alt rs80358951(G,T;G,T)
Reference rs80358951(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32929231C>G; NC_000013.10:g.32929231C>T
CLNSRC ClinVar
CLNACC RCV000045173.2, RCV000113736.1, RCV000217367.1, RCV000045174.2, RCV000113737.1,