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rs397507611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507611(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333333
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507611
dbSNP (classic)rs397507611
ClinGenrs397507611
ebirs397507611
HLIrs397507611
Exacrs397507611
Gnomadrs397507611
Varsomers397507611
LitVarrs397507611
Maprs397507611
PheGenIrs397507611
Biobankrs397507611
1000 genomesrs397507611
hgdprs397507611
ensemblrs397507611
geneviewrs397507611
scholarrs397507611
googlers397507611
pharmgkbrs397507611
gwascentralrs397507611
openSNPrs397507611
23andMers397507611
SNPshotrs397507611
SNPdbers397507611
MSV3drs397507611
GWAS Ctlgrs397507611
Max Magnitude6

aka c.1855delC and also c.1855dupC (p.Gln619fs); both are considered pathogenic in ClinVar for breast cancer

ClinVar
Risk rs397507611(C;C)
Alt rs397507611(C;C)
Reference Rs397507611(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32907470dupC
CLNSRC ClinVar
CLNACC RCV000043912.2,