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rs397507728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs397507728(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338911
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507728
dbSNP (classic)rs397507728
ClinGenrs397507728
ebirs397507728
HLIrs397507728
Exacrs397507728
Gnomadrs397507728
Varsomers397507728
LitVarrs397507728
Maprs397507728
PheGenIrs397507728
Biobankrs397507728
1000 genomesrs397507728
hgdprs397507728
ensemblrs397507728
geneviewrs397507728
scholarrs397507728
googlers397507728
pharmgkbrs397507728
gwascentralrs397507728
openSNPrs397507728
23andMers397507728
SNPshotrs397507728
SNPdbers397507728
MSV3drs397507728
GWAS Ctlgrs397507728
Max Magnitude6

aka c.4556delC (p.Pro1519Leufs)

23andMe name: i5009136

ClinVar
Risk rs397507728(-;-)
Alt rs397507728(-;-)
Reference Rs397507728(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913048delC
CLNSRC ClinVar
CLNACC RCV000044440.2, RCV000241095.2,