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rs397507419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507419(-;-)
Make rs397507419(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379893
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507419
ebirs397507419
HLIrs397507419
Exacrs397507419
Varsomers397507419
Maprs397507419
PheGenIrs397507419
hapmaprs397507419
1000 genomesrs397507419
hgdprs397507419
ensemblrs397507419
gopubmedrs397507419
geneviewrs397507419
scholarrs397507419
googlers397507419
pharmgkbrs397507419
gwascentralrs397507419
openSNPrs397507419
23andMers397507419
23andMe allrs397507419
SNP Nexus

SNPshotrs397507419
SNPdbers397507419
MSV3drs397507419
GWAS Ctlgrs397507419
Max Magnitude6

rs397507419, also known as c.9097dupA or p.Thr3033Asnfs, represents a rare variant in the BRCA2 gene.

The minor allele of this SNP is tagged as pathogenic for breast cancer in ClinVar. It is also considered a founder mutation in some populations (for example, Hungary).


ClinVar
Risk rs397507419(A;A)
Alt rs397507419(A;A)
Reference rs397507419(;)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 0
HGVS NC_000013.10:g.32954030dupA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031791.5, RCV000045711.5, RCV000130439.2, RCV000195406.1, RCV000210094.1,