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rs397507411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507411(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32376732
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507411
ebirs397507411
HLIrs397507411
Exacrs397507411
Varsomers397507411
Maprs397507411
PheGenIrs397507411
hapmaprs397507411
1000 genomesrs397507411
hgdprs397507411
ensemblrs397507411
gopubmedrs397507411
geneviewrs397507411
scholarrs397507411
googlers397507411
pharmgkbrs397507411
gwascentralrs397507411
openSNPrs397507411
23andMers397507411
23andMe allrs397507411
SNP Nexus

SNPshotrs397507411
SNPdbers397507411
MSV3drs397507411
GWAS Ctlgrs397507411
Max Magnitude6

rs397507411, also known as c.8695C>T or p.Gln2899Ter, represents a BRCA2 mutation.

It is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs397507411(T;T)
Alt rs397507411(T;T)
Reference rs397507411(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.32950869C>T
CLNSRC ClinVar
CLNACC RCV000031762.4, RCV000045603.2,