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rs80359121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359121(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371097
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359121
ebirs80359121
HLIrs80359121
Exacrs80359121
Varsomers80359121
Maprs80359121
PheGenIrs80359121
hapmaprs80359121
1000 genomesrs80359121
hgdprs80359121
ensemblrs80359121
gopubmedrs80359121
geneviewrs80359121
scholarrs80359121
googlers80359121
pharmgkbrs80359121
gwascentralrs80359121
openSNPrs80359121
23andMers80359121
23andMe allrs80359121
SNP Nexus

SNPshotrs80359121
SNPdbers80359121
MSV3drs80359121
GWAS Ctlgrs80359121
Max Magnitude6
rs80359121, also known as E2877X, c.8629G>T and p.Glu2877Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359121(T;T)
Alt rs80359121(T;T)
Reference rs80359121(G;G)
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.32945234G>T
CLNSRC ClinVar
CLNACC RCV000045575.2, RCV000113970.1, RCV000218194.1,