rs397516083
A SNP in the MYBPC3 gene on chromosome 11. Its most notable genotype is C;T: Familial Hypertrophic Cardiomyopathy
- Gene
- MYBPC3
- Location
- Chr 1147,346,379 (GRCh38)
- Highest magnitude
- 6.2Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial Hypertrophic Cardiomyopathy
- C;CGoodcommon in clinvar
SNPedia records rs397516083 on the minus strand: (A;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
- rs397515963C;CLikely severe cardiomyopathyVery important
- 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
Notes
From SNPedia
Notes
rs397516083, also known as c.927-9G>A, 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. This mutation is notable for being the third 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.
Source and license
Adapted from rs397516083 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.