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rs397507409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507409(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32376714
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507409
ebirs397507409
HLIrs397507409
Exacrs397507409
Varsomers397507409
Maprs397507409
PheGenIrs397507409
hapmaprs397507409
1000 genomesrs397507409
hgdprs397507409
ensemblrs397507409
gopubmedrs397507409
geneviewrs397507409
scholarrs397507409
googlers397507409
pharmgkbrs397507409
gwascentralrs397507409
openSNPrs397507409
23andMers397507409
23andMe allrs397507409
SNP Nexus

SNPshotrs397507409
SNPdbers397507409
MSV3drs397507409
GWAS Ctlgrs397507409
Max Magnitude6

rs397507409, also known as c.8677C>T or p.Gln2893Ter, represents a BRCA2 mutation.

It is reported in ClinVar as pathogenic for breast cancer.


ClinVar
Risk rs397507409(T;T)
Alt rs397507409(T;T)
Reference rs397507409(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32950851C>T
CLNSRC ClinVar
CLNACC RCV000031760.3, RCV000045600.3,