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rs397507690

From SNPedia

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


Make rs397507690(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338191
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507690
dbSNP (classic)rs397507690
ClinGenrs397507690
ebirs397507690
HLIrs397507690
Exacrs397507690
Gnomadrs397507690
Varsomers397507690
LitVarrs397507690
Maprs397507690
PheGenIrs397507690
Biobankrs397507690
1000 genomesrs397507690
hgdprs397507690
ensemblrs397507690
geneviewrs397507690
scholarrs397507690
googlers397507690
pharmgkbrs397507690
gwascentralrs397507690
openSNPrs397507690
23andMers397507690
SNPshotrs397507690
SNPdbers397507690
MSV3drs397507690
GWAS Ctlgrs397507690
Max Magnitude6

aka c.3836dupA and also c.3836delA; both are pathogenic in ClinVar for breast cancer

ClinVar
Risk rs397507690(-;-)
Alt rs397507690(-;-)
Reference Rs397507690(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32912328delA
CLNSRC ClinVar
CLNACC RCV000044276.3,