G700D (p.Gly700Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
G700D (p.Gly700Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B; Bethlem myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G700D (p.Gly700Asp) variant details
- p.Gly700Asp
- rs2078657536
- ClinGen CA410541548
- ClinVar RCV001988635
- ClinVar RCV005409860
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B; Bethlem myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B; B)
- EBI: Pathogenic (in BTHLM1B)
- UniProt: Pathogenic (in BTHLM1B)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)