CCND2 p.Asp267Ter
c.798dup · VCV4836942
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (5 of 5) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CCND2
- Protein
- p.Asp267Ter
- Coding
- c.798dup
- MANE Select
- NM_001759
- Type
- Duplication
- Location
- chr12:4299936 (GRCh38)
- Gene constraint
- LOEUF 0.385 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 87.98 · 1 PDB
- Residue 267
- the 'disordered' region
Similar variants
- CCND2 p.Asp267Glu Uncertain significance ★ ⚠ same residue
- CCND2 p.Asp267= Likely benign ★★ same residue
- CCND2 p.Glu274fs Likely pathogenic ★ same condition
- CCND2 p.Pro281Ala Pathogenic ★★ same condition
- CCND2 p.Arg178Cys Uncertain significance ★★ ⚠ same condition
- CCND2 p.Ser222Leu Uncertain significance ★★ ⚠ same condition
- CCND2 p.Gln215Ter Pathogenic ★ same condition
- CCND2 p.Glu272Ter Pathogenic ★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ccnd2-p-asp267ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown