Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 5 possible BRCA2 variant pathogenic for breast cancer
Make rs397507736(-;-)
Make rs397507736(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326141
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507736
ebirs397507736
HLIrs397507736
Exacrs397507736
Varsomers397507736
Maprs397507736
PheGenIrs397507736
hapmaprs397507736
1000 genomesrs397507736
hgdprs397507736
ensemblrs397507736
gopubmedrs397507736
geneviewrs397507736
scholarrs397507736
googlers397507736
pharmgkbrs397507736
gwascentralrs397507736
openSNPrs397507736
23andMers397507736
23andMe allrs397507736
SNP Nexus

SNPshotrs397507736
SNPdbers397507736
MSV3drs397507736
GWAS Ctlgrs397507736
Max Magnitude5

rs397507736, also known as c.466_467insT and p.Asp156Valfs, is a rare variant in the BRCA2 gene.

In some publications the minor allele is considered a founder mutation (for example, in Russia) pathogenic for breast cancer. However, in ClinVar this variant is currently tagged as of unknown significance.


ClinVar
Risk rs397507736(T;T)
Alt rs397507736(T;T)
Reference rs397507736(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32900278_32900279insT
CLNSRC ClinVar
CLNACC RCV000044466.2,