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rs397507277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507277(-;-)
Make rs397507277(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333290
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507277
ebirs397507277
HLIrs397507277
Exacrs397507277
Varsomers397507277
Maprs397507277
PheGenIrs397507277
hapmaprs397507277
1000 genomesrs397507277
hgdprs397507277
ensemblrs397507277
gopubmedrs397507277
geneviewrs397507277
scholarrs397507277
googlers397507277
pharmgkbrs397507277
gwascentralrs397507277
openSNPrs397507277
23andMers397507277
23andMe allrs397507277
SNP Nexus

SNPshotrs397507277
SNPdbers397507277
MSV3drs397507277
GWAS Ctlgrs397507277
Max Magnitude6

rs397507277, also known as c.1813dupA, c.1812_1813insA and p.Ile605Asnfs, is a rare variant in the BRCA2 gene.

This variant is considered a pathogenic breast cancer mutation that is also a founder mutation in some populations (such as Germany). It is also designated as pathogenic in ClinVar.


ClinVar
Risk rs397507277(A;A)
Alt rs397507277(A;A)
Reference rs397507277(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32907428dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031343.11, RCV000043897.6, RCV000131453.2, RCV000160269.2,