S25N (p.Ser25Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S25N (p.Ser25Asn) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- rs371140684
- ClinGen CA015780
- ClinVar RCV000151173
- ClinVar RCV000314127
- Conflicting interpretations
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 13.20
- PolyPhen-2 0.72
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)