C68Y (p.Cys68Tyr) variant of SDHB (P21912)
C68Y (p.Cys68Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C68Y (p.Cys68Tyr) variant details
- p.Cys68Tyr
- rs587782904
- ClinGen CA015598
- ClinVar RCV000132547
- ClinVar RCV000548841
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.77
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)