T344M (p.Thr344Met) variant of MEN1 (Menin)
T344M (p.Thr344Met) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T344M (p.Thr344Met) variant details
- p.Thr344Met
- rs1259681826
- ClinGen CA381183208
- ClinVar RCV000632122
- ClinVar RCV003380646
- Conflicting interpretations
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the South Asian population (allele frequency 1.2e-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)