R72G (p.Arg72Gly) variant of SDHC (Q99643)
R72G (p.Arg72Gly) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- rs756676111
- ClinGen CA343365918
- ClinVar RCV002432431
- ClinVar RCV003098662
- Conflicting interpretations
- Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.79
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)