COPB2 c.2554dupG
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP 2.5, phastCons 1 |
| Non-coding constraint | Z 1.60 | 1 kb window · o/e 0.88 · regional · uncalibrated |
Variant & gene context
- Gene
- COPB2
- Coding
- c.2554dupG
- MANE Select
- NM_004766
- Type
- Duplication
- Location
- chr3:139358270 (GRCh38)
- Gene constraint
- LOEUF 0.177 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.75 · 2 PDB
Similar variants
- COPB2 p.Glu646Lys Uncertain significance ★★ ⚠ same condition
- COPB2 p.Glu879Lys Uncertain significance ★★ ⚠ same condition
- COPB2 p.Ile864Thr Uncertain significance ★★ ⚠ same condition
- COPB2 p.Leu649Phe Uncertain significance ★★ ⚠ same condition
- COPB2 p.Ser135Ala Uncertain significance ★★ ⚠ same condition
- COPB2 p.Asn285Ser Benign/Likely benign ★★ ⚠ same condition
- COPB2 p.Ala480Thr Uncertain significance ★ ⚠ same condition
- COPB2 p.Ala719Thr Uncertain significance ★ 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/copb2-c-2554dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown