ACO2 p.Thr294del
c.876CAC[1] · VCV4948167
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 9.9 | GERP 1.9, phastCons 1 |
Variant & gene context
- Gene
- ACO2
- Protein
- p.Thr294del
- Coding
- c.876CAC[1]
- MANE Select
- NM_001098
- Type
- Microsatellite
- Location
- chr22:41517566 (GRCh38)
- Gene constraint
- LOEUF 0.489 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44
Similar variants
- ACO2 p.Thr294Ser Uncertain significance ★ same residue
- ACO2 p.Ser239fs Pathogenic/Likely pathogenic ★★ same type
- ACO2 p.Lys521del Uncertain significance ★★ same type
- ACO2 c.1762-20CT[2] Likely benign ★★ same type
- ACO2 p.Glu371fs Likely pathogenic ★ same type
- ACO2 p.Gly240fs Likely pathogenic ★ same type
- ACO2 p.Ser66fs Likely pathogenic ★ same type
- ACO2 p.Arg92_Pro93insLeuArg Uncertain significance ★ same type
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/aco2-p-thr294del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown