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rs397507605

From SNPedia

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


Make rs397507605(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333226
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507605
dbSNP (classic)rs397507605
ClinGenrs397507605
ebirs397507605
HLIrs397507605
Exacrs397507605
Gnomadrs397507605
Varsomers397507605
LitVarrs397507605
Maprs397507605
PheGenIrs397507605
Biobankrs397507605
1000 genomesrs397507605
hgdprs397507605
ensemblrs397507605
geneviewrs397507605
scholarrs397507605
googlers397507605
pharmgkbrs397507605
gwascentralrs397507605
openSNPrs397507605
23andMers397507605
SNPshotrs397507605
SNPdbers397507605
MSV3drs397507605
GWAS Ctlgrs397507605
Max Magnitude6

aka c.1748delT (p.Leu583Terfs)

23andMe name: i5009215

ClinVar
Risk rs397507605(-;-)
Alt rs397507605(-;-)
Reference Rs397507605(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32907363delT
CLNSRC ClinVar
CLNACC RCV000043872.2, RCV000257016.2, RCV000478564.1,