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rs397507761

From SNPedia

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


Make rs397507761(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339501
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507761
ebirs397507761
HLIrs397507761
Exacrs397507761
Varsomers397507761
Maprs397507761
PheGenIrs397507761
hapmaprs397507761
1000 genomesrs397507761
hgdprs397507761
ensemblrs397507761
gopubmedrs397507761
geneviewrs397507761
scholarrs397507761
googlers397507761
pharmgkbrs397507761
gwascentralrs397507761
openSNPrs397507761
23andMers397507761
23andMe allrs397507761
SNP Nexus

SNPshotrs397507761
SNPdbers397507761
MSV3drs397507761
GWAS Ctlgrs397507761
Max Magnitude6

rs397507761, also known as c.5146_5149delTATG and p.Tyr1716Lysfs, represents a rare variant in the BRCA2 gene.

Multiple ClinVar submitters consider the minor allele of this SNP pathogenic for breast cancer, and it is also a founder mutation in some populations (for example, Spain).


ClinVar
Risk rs397507761(;)
Alt rs397507761(;)
Reference rs397507761(TGTA;TGTA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913638_32913641delTATG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044567.3, RCV000113387.1, RCV000214399.1,