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rs397507689

From SNPedia

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


Make rs397507689(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338185
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507689
dbSNP (classic)rs397507689
ClinGenrs397507689
ebirs397507689
HLIrs397507689
Exacrs397507689
Gnomadrs397507689
Varsomers397507689
LitVarrs397507689
Maprs397507689
PheGenIrs397507689
Biobankrs397507689
1000 genomesrs397507689
hgdprs397507689
ensemblrs397507689
geneviewrs397507689
scholarrs397507689
googlers397507689
pharmgkbrs397507689
gwascentralrs397507689
openSNPrs397507689
23andMers397507689
SNPshotrs397507689
SNPdbers397507689
MSV3drs397507689
GWAS Ctlgrs397507689
Max Magnitude6

aka c.3829_3830delAA as well as c.3830delA (p.Asn1277Ilefs); both are pathogenic in ClinVar for breast cancer

23andMe name: i5009162

ClinVar
Risk rs397507689(-;-)
Alt rs397507689(-;-)
Reference Rs397507689(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32912322delA
CLNSRC ClinVar
CLNACC RCV000044274.2,