G28S (p.Gly28Ser) variant of MEN1 (Menin)
G28S (p.Gly28Ser) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- rs953827589
- ClinGen CA381188038
- ClinVar RCV001054889
- ClinVar RCV003160439
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.44
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.90
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)