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rs397507395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507395(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362680
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507395
ebirs397507395
HLIrs397507395
Exacrs397507395
Varsomers397507395
Maprs397507395
PheGenIrs397507395
hapmaprs397507395
1000 genomesrs397507395
hgdprs397507395
ensemblrs397507395
gopubmedrs397507395
geneviewrs397507395
scholarrs397507395
googlers397507395
pharmgkbrs397507395
gwascentralrs397507395
openSNPrs397507395
23andMers397507395
23andMe allrs397507395
SNP Nexus

SNPshotrs397507395
SNPdbers397507395
MSV3drs397507395
GWAS Ctlgrs397507395
Max Magnitude6

rs397507395, also known as c.7963C>T or p.Gln2655Ter, represents a BRCA2 mutation.

It is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs397507395(T;T)
Alt rs397507395(T;T)
Reference rs397507395(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32936817C>T
CLNSRC ClinVar
CLNACC RCV000031710.3, RCV000045357.2,