C634G (p.Cys634Gly) variant of RET (P07949)
C634G (p.Cys634Gly) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; MEN2 phenotype: Unclassif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C634G (p.Cys634Gly) variant details
- p.Cys634Gly
- rs75076352
- ClinGen CA008324
- cosmic curated COSV60685
- ClinVar RCV000014922
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; MEN2 phenotype: Unclassif
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.95
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; MEN2 phen)
- EBI: Pathogenic (in MEN2A and pheochromocytoma)
- UniProt: Pathogenic (in MEN2A and pheochromocytoma)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. (PMID 3078962)