G28S (p.Gly28Ser) variant of RET (P07949)
G28S (p.Gly28Ser) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- rs779905135
- ClinGen CA045033
- ClinVar RCV000807337
- ClinVar RCV002424881
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.60
- MetaLR 0.67
- MetaSVM 0.42
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)