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rs397507753

From SNPedia

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


Make rs397507753(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339342
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507753
dbSNP (classic)rs397507753
ClinGenrs397507753
ebirs397507753
HLIrs397507753
Exacrs397507753
Gnomadrs397507753
Varsomers397507753
LitVarrs397507753
Maprs397507753
PheGenIrs397507753
Biobankrs397507753
1000 genomesrs397507753
hgdprs397507753
ensemblrs397507753
geneviewrs397507753
scholarrs397507753
googlers397507753
pharmgkbrs397507753
gwascentralrs397507753
openSNPrs397507753
23andMers397507753
SNPshotrs397507753
SNPdbers397507753
MSV3drs397507753
GWAS Ctlgrs397507753
Max Magnitude6

aka c.4987_4990delGTCA (p.Val1663Leufs)

23andMe name: i5009120

ClinVar
Risk rs397507753(-;-)
Alt rs397507753(-;-)
Reference Rs397507753(TCAG;TCAG)
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.32913479_32913482delGTCA
CLNSRC ClinVar
CLNACC RCV000044535.2, RCV000241465.1,