C618G (p.Cys618Gly) variant of RET (P07949)
C618G (p.Cys618Gly) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C618G (p.Cys618Gly) variant details
- p.Cys618Gly
- rs76262710
- ClinGen CA007995
- cosmic curated COSV10441
- ClinVar RCV000014919
- Pathogenic
- Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.10
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic (Familial medullary thyroid carcinoma; Multiple endocrine neoplas)
- EBI: Pathogenic (in MEN2A)
- UniProt: Pathogenic (in MEN2A)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. (PMID 3078962)
- Cited in: Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. (PMID 7907913)