rs397515963
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) | 7 | familial hypertrophic cardiomyopathy mutation |
| (G;G) | 8 | Likely severe cardiomyopathy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47337729 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515963 |
| dbSNP (classic) | rs397515963 |
| ClinGen | rs397515963 |
| ebi | rs397515963 |
| HLI | rs397515963 |
| Exac | rs397515963 |
| Gnomad | rs397515963 |
| Varsome | rs397515963 |
| LitVar | rs397515963 |
| Map | rs397515963 |
| PheGenI | rs397515963 |
| Biobank | rs397515963 |
| 1000 genomes | rs397515963 |
| hgdp | rs397515963 |
| ensembl | rs397515963 |
| geneview | rs397515963 |
| scholar | rs397515963 |
| rs397515963 | |
| pharmgkb | rs397515963 |
| gwascentral | rs397515963 |
| openSNP | rs397515963 |
| 23andMe | rs397515963 |
| SNPshot | rs397515963 |
| SNPdbe | rs397515963 |
| MSV3d | rs397515963 |
| GWAS Ctlg | rs397515963 |
| Merged from | Rs796596743 |
| Max Magnitude | 8 |
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 Cardiovascular phenotype |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Familial hypertrophic cardiomyopathy 4 Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy not provided Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47359281dupC |
| CLNSRC | MYBPC3 homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant |
| CLNACC | RCV000035487.6, RCV000157312.3, RCV000162332.1, RCV000198895.4, RCV000223694.3, RCV000245146.1, |
