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rs397507777

From SNPedia

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


Make rs397507777(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339609
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507777
dbSNP (classic)rs397507777
ClinGenrs397507777
ebirs397507777
HLIrs397507777
Exacrs397507777
Gnomadrs397507777
Varsomers397507777
LitVarrs397507777
Maprs397507777
PheGenIrs397507777
Biobankrs397507777
1000 genomesrs397507777
hgdprs397507777
ensemblrs397507777
geneviewrs397507777
scholarrs397507777
googlers397507777
pharmgkbrs397507777
gwascentralrs397507777
openSNPrs397507777
23andMers397507777
SNPshotrs397507777
SNPdbers397507777
MSV3drs397507777
GWAS Ctlgrs397507777
Max Magnitude6

aka c.5254delC (p.His1752Ilefs)

23andMe name: i5009107


ClinVar
Risk rs397507777(-;-)
Alt rs397507777(-;-)
Reference Rs397507777(C;C)
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.32913746delC
CLNSRC ClinVar
CLNACC RCV000044622.2, RCV000214583.1, RCV000257776.2,