G156S (p.Gly156Ser) variant of MEN1 (Menin)
G156S (p.Gly156Ser) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G156S (p.Gly156Ser) variant details
- p.Gly156Ser
- rs1085307471
- ClinGen CA381186245
- ClinVar RCV000702784
- ClinVar RCV001269816
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Multiple)
- EBI: Pathogenic (in MEN1 and parathyroid tumor)
- UniProt: Pathogenic (in MEN1 and parathyroid tumor)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)