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rs397507785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397507785(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339794
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507785
dbSNP (classic)rs397507785
ClinGenrs397507785
ebirs397507785
HLIrs397507785
Exacrs397507785
Gnomadrs397507785
Varsomers397507785
LitVarrs397507785
Maprs397507785
PheGenIrs397507785
Biobankrs397507785
1000 genomesrs397507785
hgdprs397507785
ensemblrs397507785
geneviewrs397507785
scholarrs397507785
googlers397507785
pharmgkbrs397507785
gwascentralrs397507785
openSNPrs397507785
23andMers397507785
SNPshotrs397507785
SNPdbers397507785
MSV3drs397507785
GWAS Ctlgrs397507785
Merged fromRs863224466
Max Magnitude6

aka c.5439delT (p.Val1814Terfs)

23andMe name: i5009099

ClinVar
Risk rs397507785(-;-)
Alt rs397507785(-;-)
Reference Rs397507785(T;T)
Significance Pathogenic
Disease Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913931delT
CLNSRC ClinVar
CLNACC RCV000044661.2, RCV000198909.1, RCV000241279.1,