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rs397507904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGTCT;AAAGTCT) 0 common in clinvar
(AAAGTCT;TG) 6 BRCA2 variant considered pathogenic for breast cancer
(AAAGTCT;TGTAG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507904(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355063
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507904
dbSNP (classic)rs397507904
ClinGenrs397507904
ebirs397507904
HLIrs397507904
Exacrs397507904
Gnomadrs397507904
Varsomers397507904
LitVarrs397507904
Maprs397507904
PheGenIrs397507904
Biobankrs397507904
1000 genomesrs397507904
hgdprs397507904
ensemblrs397507904
geneviewrs397507904
scholarrs397507904
googlers397507904
pharmgkbrs397507904
gwascentralrs397507904
openSNPrs397507904
23andMers397507904
SNPshotrs397507904
SNPdbers397507904
MSV3drs397507904
GWAS Ctlgrs397507904
Max Magnitude6

aka c.7210_7216delAAAGTCTinsTGTAG and also c.7210_7216delAAAGTCTinsTG; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs397507904(TG;TG) rs397507904(TGTAG;TGTAG)
Alt rs397507904(TG;TG) rs397507904(TGTAG;TGTAG)
Reference Rs397507904(AAAGTCT;AAAGTCT)
Significance Pathogenic
Disease Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32929200_32929206delAAAGTCTinsTG; NC_000013.10:g.32929200_32929206delAAAGTCTinsTGTAG
CLNSRC ClinVar
CLNACC RCV000045165.2, RCV000255333.1,