D770N (p.Asp770Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D770N (p.Asp770Asn) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D770N (p.Asp770Asn) variant details
- p.Asp770Asn
- rs36211723
- ClinGen CA012015
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99920
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.52
- MetaSVM 0.30
- CADD 35.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID 15519027)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)