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rs80358391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358391(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319109
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358391
ebirs80358391
HLIrs80358391
Exacrs80358391
Varsomers80358391
Maprs80358391
PheGenIrs80358391
hapmaprs80358391
1000 genomesrs80358391
hgdprs80358391
ensemblrs80358391
gopubmedrs80358391
geneviewrs80358391
scholarrs80358391
googlers80358391
pharmgkbrs80358391
gwascentralrs80358391
openSNPrs80358391
23andMers80358391
23andMe allrs80358391
SNP Nexus

SNPshotrs80358391
SNPdbers80358391
MSV3drs80358391
GWAS Ctlgrs80358391
Max Magnitude6
rs80358391, also known as E34X, c.100G>T and p.Glu34Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358391(T;T)
Alt rs80358391(T;T)
Reference rs80358391(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.32893246G>T
CLNSRC ClinVar
CLNACC RCV000043711.2, RCV000113128.1, RCV000222288.1,