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

rs397507866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Likely miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer
Make rs397507866(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340902
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507866
dbSNP (classic)rs397507866
ClinGenrs397507866
ebirs397507866
HLIrs397507866
Exacrs397507866
Gnomadrs397507866
Varsomers397507866
LitVarrs397507866
Maprs397507866
PheGenIrs397507866
Biobankrs397507866
1000 genomesrs397507866
hgdprs397507866
ensemblrs397507866
geneviewrs397507866
scholarrs397507866
googlers397507866
pharmgkbrs397507866
gwascentralrs397507866
openSNPrs397507866
23andMers397507866
SNPshotrs397507866
SNPdbers397507866
MSV3drs397507866
GWAS Ctlgrs397507866
Max Magnitude6

aka c.6547G>T (p.Glu2183Ter)

ClinVar
Risk rs397507866(T;T)
Alt rs397507866(T;T)
Reference Rs397507866(G;G)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915039G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044981.2, RCV000132475.2, RCV000241124.2,