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rs397507859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507859(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340824
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507859
dbSNP (classic)rs397507859
ClinGenrs397507859
ebirs397507859
HLIrs397507859
Exacrs397507859
Gnomadrs397507859
Varsomers397507859
LitVarrs397507859
Maprs397507859
PheGenIrs397507859
Biobankrs397507859
1000 genomesrs397507859
hgdprs397507859
ensemblrs397507859
geneviewrs397507859
scholarrs397507859
googlers397507859
pharmgkbrs397507859
gwascentralrs397507859
openSNPrs397507859
23andMers397507859
SNPshotrs397507859
SNPdbers397507859
MSV3drs397507859
GWAS Ctlgrs397507859
Max Magnitude6

aka c.6469C>T (p.Gln2157Ter)

ClinVar
Risk rs397507859(G;G) rs397507859(T;T)
Alt rs397507859(G;G) rs397507859(T;T)
Reference Rs397507859(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914961C>G; NC_000013.10:g.32914961C>T
CLNSRC ClinVar
CLNACC RCV000214385.1, RCV000462334.1, RCV000483077.1, RCV000044966.2, RCV000241247.2,