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rs397507788

From SNPedia

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


Make rs397507788(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339924
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507788
dbSNP (classic)rs397507788
ClinGenrs397507788
ebirs397507788
HLIrs397507788
Exacrs397507788
Gnomadrs397507788
Varsomers397507788
LitVarrs397507788
Maprs397507788
PheGenIrs397507788
Biobankrs397507788
1000 genomesrs397507788
hgdprs397507788
ensemblrs397507788
geneviewrs397507788
scholarrs397507788
googlers397507788
pharmgkbrs397507788
gwascentralrs397507788
openSNPrs397507788
23andMers397507788
SNPshotrs397507788
SNPdbers397507788
MSV3drs397507788
GWAS Ctlgrs397507788
Max Magnitude6

aka c.5569_5573delGAAAC (p.Glu1857Asnfs)

23andMe name: i5009097

ClinVar
Risk rs397507788(-;-)
Alt rs397507788(-;-)
Reference Rs397507788(GAAAC;GAAAC)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914061_32914065delGAAAC
CLNSRC ClinVar
CLNACC RCV000044683.2, RCV000167362.1, RCV000168578.4, RCV000257914.1,