R217C (p.Arg217Cys) variant of SDHB (P21912)
R217C (p.Arg217Cys) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
R217C (p.Arg217Cys) variant details
- p.Arg217Cys
- rs200245469
- ClinGen CA016064
- ClinVar RCV000162444
- ClinVar RCV000539362
- Pathogenic/Likely pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)