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rs397507897

From SNPedia

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


Make rs397507897(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354963
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507897
dbSNP (classic)rs397507897
ClinGenrs397507897
ebirs397507897
HLIrs397507897
Exacrs397507897
Gnomadrs397507897
Varsomers397507897
LitVarrs397507897
Maprs397507897
PheGenIrs397507897
Biobankrs397507897
1000 genomesrs397507897
hgdprs397507897
ensemblrs397507897
geneviewrs397507897
scholarrs397507897
googlers397507897
pharmgkbrs397507897
gwascentralrs397507897
openSNPrs397507897
23andMers397507897
SNPshotrs397507897
SNPdbers397507897
MSV3drs397507897
GWAS Ctlgrs397507897
Max Magnitude6

rs397507897, also known as 7338delA, c.7110delA and p.Lys2370Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs397507897(-;-)
Alt rs397507897(-;-)
Reference Rs397507897(A;A)
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.32929100delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045145.2, RCV000113710.2,