T280N (p.Thr280Asn) variant of CCND2 (G1/S-specific cyclin-D2)
T280N (p.Thr280Asn) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lennox-Gastaut syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T280N (p.Thr280Asn) variant details
- p.Thr280Asn
- rs587777620
- ClinGen CA170551
- ClinVar RCV000133497
- ClinVar RCV000264513
- Pathogenic/Likely pathogenic
- Lennox-Gastaut syndrome; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.79
- MetaLR 0.14
- MetaSVM -0.80
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lennox-Gastaut syndrome; Megalencephaly-polymicrogyria-polydacty)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: De novo CCND2 mutations leading to stabilization of cyclin D2 cause… (PMID 24705253)
- Cited in: MPPH Syndrome. (PMID 27854409)