ACO2 p.Ile742del
c.2222TCA[1] · rs2146158052 · VCV1354850
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 12 | GERP 1.9, phastCons 1 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ACO2
- Protein
- p.Ile742del
- Coding
- c.2222TCA[1]
- MANE Select
- NM_001098
- dbSNP
- rs2146158052
- Type
- Microsatellite
- Location
- chr22:41528490 (GRCh38)
- Gene constraint
- LOEUF 0.489 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44
Similar variants
- ACO2 p.Ile742= Likely benign ★★ 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-ile742del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown