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rs397507869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 Likely miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs397507869(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340956
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507869
dbSNP (classic)rs397507869
ClinGenrs397507869
ebirs397507869
HLIrs397507869
Exacrs397507869
Gnomadrs397507869
Varsomers397507869
LitVarrs397507869
Maprs397507869
PheGenIrs397507869
Biobankrs397507869
1000 genomesrs397507869
hgdprs397507869
ensemblrs397507869
geneviewrs397507869
scholarrs397507869
googlers397507869
pharmgkbrs397507869
gwascentralrs397507869
openSNPrs397507869
23andMers397507869
SNPshotrs397507869
SNPdbers397507869
MSV3drs397507869
GWAS Ctlgrs397507869
Max Magnitude6

aka c.6601delT (p.Ser2201Leufs)

ClinVar
Risk rs397507869(-;-)
Alt rs397507869(-;-)
Reference Rs397507869(T;T)
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.32915093delT
CLNSRC ClinVar
CLNACC RCV000044991.2, RCV000165788.1, RCV000241208.2,