G7S (p.Gly7Ser) variant of ACTN2 (Alpha-actinin-2)
G7S (p.Gly7Ser) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; Cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs1057523721
- ClinGen CA16603593
- ClinVar RCV000435130
- ClinVar RCV000560681
- Uncertain significance
- Primary familial hypertrophic cardiomyopathy; Dilated cardiomyopathy 1AA; Cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.19
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Primary familial hypertrophic cardiomyopathy; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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: Dilated Cardiomyopathy Overview. (PMID 20301486)