R234C (p.Arg234Cys) variant of BIN1 (O00499)
R234C (p.Arg234Cys) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R234C (p.Arg234Cys) variant details
- p.Arg234Cys
- rs777176261
- ClinGen CA1857363
- ClinVar RCV000754843
- UniProt VAR 081084
- Pathogenic/Likely pathogenic
- not provided; Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.71
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Myopathy, centronuclear, 2)
- EBI: Pathogenic (in CNM2)
- UniProt: Pathogenic (in CNM2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. (PMID 29950440)
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)