rs397515963
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is C;C: Likely severe cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,337,729 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;CBadfamilial hypertrophic cardiomyopathy mutation
- C;CMost notableBadLikely severe cardiomyopathy
SNPedia records rs397515963 on the minus strand: (-;-), (-;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MYBPC3 SNPs
- rs200411226C;THypertrophic CardiomyopathyVery important
- rs375882485A;Gfamilial hypertrophic cardiomyopathy mutationVery important
- rs786204338C;GHypertrophic CardiomyopathyVery important
- rs1060501474G;THypertrophic CardiomyopathyVery important
- rs111683277C;TFamilial Hypertrophic CardiomyopathyVery important
- rs111729952C;TFamilial Hypertrophic CardiomyopathyVery important
- rs113358486A;CFamilial Hypertrophic CardiomyopathyVery important
- rs121909374C;GFamilial Hypertrophic CardiomyopathyVery important
Notes
From SNPedia
Show notes, about 190 words
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. 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. Note: 23andMe refers to this SNP as i5046245.
-;C
see discussion at rs397515963
C;C
One dominant pathogenic mutation is bad. Two is considered to be worse. One recorded case of a child born with homozygosity for the c.2373dup variant resulted in cardiomegaly and death at 12 weeks. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.
References
Source and license
Adapted from rs397515963 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.