C620S (p.Cys620Ser) variant of RET (P07949)
C620S (p.Cys620Ser) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2. The record also includes published literature and structural context.
C620S (p.Cys620Ser) variant details
- p.Cys620Ser
- rs77503355
- ClinGen CA008085
- cosmic curated COSV60710
- ClinVar RCV000014970
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN2A and MTC)
- UniProt: Pathogenic (in MEN2A and MTC)
- Structural context available
- Cited in: Unilateral renal agenesis in a family with medullary thyroid carcinoma. (PMID 10777380)
- Cited in: Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations. (PMID 11454140)