G315S (p.Gly315Ser) variant of SELENON (Selenoprotein N)
G315S (p.Gly315Ser) in SELENON (Selenoprotein N) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Eichsfeld type congenital muscular dystrophy; Congenital myopathy 4A, autosomal. The record also includes variant effect predictions, population frequency data, and published literature.
G315S (p.Gly315Ser) variant details
- p.Gly315Ser
- rs121908188
- UniProt VAR 019637
- Likely pathogenic
- Eichsfeld type congenital muscular dystrophy; Congenital myopathy 4A, autosomal
- Missense
- REVEL 0.95
- MetaLR 0.92
- MetaSVM 1.04
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Eichsfeld type congenital muscular dystrophy)
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)
- Cited in: Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the… (PMID 23394784)