Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358615(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338103
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358615
ebirs80358615
HLIrs80358615
Exacrs80358615
Varsomers80358615
Maprs80358615
PheGenIrs80358615
hapmaprs80358615
1000 genomesrs80358615
hgdprs80358615
ensemblrs80358615
gopubmedrs80358615
geneviewrs80358615
scholarrs80358615
googlers80358615
pharmgkbrs80358615
gwascentralrs80358615
openSNPrs80358615
23andMers80358615
23andMe allrs80358615
SNP Nexus

SNPshotrs80358615
SNPdbers80358615
MSV3drs80358615
GWAS Ctlgrs80358615
Max Magnitude6
rs80358615, also known as E1250X, c.3748G>T and p.Glu1250Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358615(T;T)
Alt rs80358615(T;T)
Reference rs80358615(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912240G>A; NC_000013.10:g.32912240G>T
CLNSRC ClinVar
CLNACC RCV000221215.1, RCV000044255.2, RCV000113213.1,