G56S (p.Gly56Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G56S (p.Gly56Ser) 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 not specified; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs397515918
- ClinGen CA010889
- cosmic curated COSV57034
- ClinVar RCV000035425
- Conflicting interpretations
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)