D17N (p.Asp17Asn) variant of MEN1 (Menin)
D17N (p.Asp17Asn) 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; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs1399824473
- ClinGen CA381188174
- ClinVar RCV000632125
- ClinVar RCV001023389
- Conflicting interpretations
- not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.63
- CADD 24.50
- PolyPhen-2 0.34
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple endocrine neoplasia, type 1; Hereditary c)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)