G5R (p.Gly5Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G5R (p.Gly5Arg) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs201278114
- ClinGen CA010249
- ClinVar RCV000148668
- ClinVar RCV000151176
- Benign
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 17.80
- PolyPhen-2 0.10
- SIFT 0.35
- ClinVar: Benign (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)