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rs397507585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 5 Likely BRCA2 mutation pathogenic for breast cancer
Make rs397507585(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332870
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507585
dbSNP (classic)rs397507585
ClinGenrs397507585
ebirs397507585
HLIrs397507585
Exacrs397507585
Gnomadrs397507585
Varsomers397507585
LitVarrs397507585
Maprs397507585
PheGenIrs397507585
Biobankrs397507585
1000 genomesrs397507585
hgdprs397507585
ensemblrs397507585
geneviewrs397507585
scholarrs397507585
googlers397507585
pharmgkbrs397507585
gwascentralrs397507585
openSNPrs397507585
23andMers397507585
SNPshotrs397507585
SNPdbers397507585
MSV3drs397507585
GWAS Ctlgrs397507585
Max Magnitude5

aka c.1392_1393insT (p.Val465fs); note this mutation is not expert panel reviewed

ClinVar
Risk rs397507585(T;T)
Alt rs397507585(T;T)
Reference Rs397507585(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32907007_32907008insT
CLNSRC ClinVar
CLNACC RCV000043796.2,