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rs80358843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358843(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340420
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358843
ebirs80358843
HLIrs80358843
Exacrs80358843
Varsomers80358843
Maprs80358843
PheGenIrs80358843
hapmaprs80358843
1000 genomesrs80358843
hgdprs80358843
ensemblrs80358843
gopubmedrs80358843
geneviewrs80358843
scholarrs80358843
googlers80358843
pharmgkbrs80358843
gwascentralrs80358843
openSNPrs80358843
23andMers80358843
23andMe allrs80358843
SNP Nexus

SNPshotrs80358843
SNPdbers80358843
MSV3drs80358843
GWAS Ctlgrs80358843
Max Magnitude6
rs80358843, also known as S2022X, c.6065C>G and p.Ser2022Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358843(G;G)
Alt rs80358843(G;G)
Reference rs80358843(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.32914557C>G
CLNSRC ClinVar
CLNACC RCV000044830.2, RCV000113522.1, RCV000217928.1,