R145C (p.Arg145Cys) variant of BIN1 (O00499)
R145C (p.Arg145Cys) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myopathy, centronuclear, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R145C (p.Arg145Cys) variant details
- p.Arg145Cys
- rs1249621033
- ClinGen CA348367975
- NCI-TCGA Cosmic COSV5211
- ClinVar RCV000754844
- Likely pathogenic
- Myopathy, centronuclear, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.52
- CADD 28.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Myopathy, centronuclear, 2)
- EBI: Pathogenic (in CNM2)
- UniProt: Pathogenic (in CNM2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)