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rs397507820

From SNPedia

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


Make rs397507820(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316465
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507820
dbSNP (classic)rs397507820
ClinGenrs397507820
ebirs397507820
HLIrs397507820
Exacrs397507820
Gnomadrs397507820
Varsomers397507820
LitVarrs397507820
Maprs397507820
PheGenIrs397507820
Biobankrs397507820
1000 genomesrs397507820
hgdprs397507820
ensemblrs397507820
geneviewrs397507820
scholarrs397507820
googlers397507820
pharmgkbrs397507820
gwascentralrs397507820
openSNPrs397507820
23andMers397507820
SNPshotrs397507820
SNPdbers397507820
MSV3drs397507820
GWAS Ctlgrs397507820
Max Magnitude6

aka c.5delC (p.Pro2fs)

ClinVar
Risk rs397507820(-;-)
Alt rs397507820(-;-)
Reference Rs397507820(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.32890602delC
CLNSRC ClinVar
CLNACC RCV000044816.2, RCV000256687.2,