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rs397507349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGT;AGT) 0 common in clinvar
(TAG;TAG) 0 common in clinvar
Make rs397507349(-;-)
Make rs397507349(-;TAG)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339584
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507349
dbSNP (classic)rs397507349
ClinGenrs397507349
ebirs397507349
HLIrs397507349
Exacrs397507349
Gnomadrs397507349
Varsomers397507349
LitVarrs397507349
Maprs397507349
PheGenIrs397507349
Biobankrs397507349
1000 genomesrs397507349
hgdprs397507349
ensemblrs397507349
geneviewrs397507349
scholarrs397507349
googlers397507349
pharmgkbrs397507349
gwascentralrs397507349
openSNPrs397507349
23andMers397507349
SNPshotrs397507349
SNPdbers397507349
MSV3drs397507349
GWAS Ctlgrs397507349
Max Magnitude0

c.5229_5231delTAG (p.Ser1744del); variant of uncertain significance with respect to breast cancer according to ClinVar

ClinVar
Risk rs397507349(-;-)
Alt rs397507349(-;-)
Reference Rs397507349(AGT;AGT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913721_32913723delTAG
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031534.3, RCV000129999.3,