I46T (p.Ile46Thr) variant of SDHC (Q99643)
I46T (p.Ile46Thr) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered. The record also includes published literature and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs2526365022
- ClinGen CA343361170
- ClinVar RCV003033011
- ClinVar RCV004673775
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- EBI: Likely benign
- UniProt: Likely benign
- 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)