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rs397515963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 7 familial hypertrophic cardiomyopathy mutation
Make rs397515963(-;-)
Make rs397515963(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47337729
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs397515963
ebirs397515963
HLIrs397515963
Exacrs397515963
Varsomers397515963
Maprs397515963
PheGenIrs397515963
hapmaprs397515963
1000 genomesrs397515963
hgdprs397515963
ensemblrs397515963
gopubmedrs397515963
geneviewrs397515963
scholarrs397515963
googlers397515963
pharmgkbrs397515963
gwascentralrs397515963
openSNPrs397515963
23andMers397515963
23andMe allrs397515963
SNP Nexus

SNPshotrs397515963
SNPdbers397515963
MSV3drs397515963
GWAS Ctlgrs397515963
Max Magnitude7

rs397515963, also known as c.2373dupG, c.2373_2373insG and p.Trp792fs, is a mutation in the MYBPC3 gene considered to be an autosomal dominant leading to familial hypertrophic cardiomyopathy, type 4, according to multiple sources in ClinVar. Considered a founder mutation, this variant accounts for ~25% of the HCM cases in the Netherlands.[PMID 14563344]

This mutation is notable for being the second most common pathogenic variant seen in 2,912 unrelated individuals with nonsyndromic hypertrophic cardiomyopathy (HCM) presentations over a 10 year period (2004-2014) at the Partners Healthcare Personalized Medicine clinic in Boston.[PMID 25611685]

Note: 23andMe refers to this SNP as i5046245.

ClinVar
Risk rs397515963(G;G)
Alt rs397515963(G;G)
Reference rs397515963(;)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided
Variation info
Gene MYBPC3
CLNDBN Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000011.9:g.47359281dupC
CLNSRC Centenary Institute
CLNACC RCV000035487.4, RCV000157312.2, RCV000162332.1, RCV000198895.3, RCV000223694.2,