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rs397508055

From SNPedia

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


Make rs397508055(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394930
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397508055
dbSNP (classic)rs397508055
ClinGenrs397508055
ebirs397508055
HLIrs397508055
Exacrs397508055
Gnomadrs397508055
Varsomers397508055
LitVarrs397508055
Maprs397508055
PheGenIrs397508055
Biobankrs397508055
1000 genomesrs397508055
hgdprs397508055
ensemblrs397508055
geneviewrs397508055
scholarrs397508055
googlers397508055
pharmgkbrs397508055
gwascentralrs397508055
openSNPrs397508055
23andMers397508055
SNPshotrs397508055
SNPdbers397508055
MSV3drs397508055
GWAS Ctlgrs397508055
Max Magnitude6

aka c.9498delT and also c.9498dupT; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs397508055(-;-)
Alt rs397508055(-;-)
Reference Rs397508055(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32969067delT
CLNSRC ClinVar
CLNACC RCV000045833.2, RCV000257777.2,