ACO2 p.Glu750fs
c.2250_2254del · VCV4726301
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (18 of 18) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACO2
- Protein
- p.Glu750fs
- Coding
- c.2250_2254del
- MANE Select
- NM_001098
- Type
- Deletion
- Location
- chr22:41528519 (GRCh38)
- Gene constraint
- LOEUF 0.489 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44
Similar variants
- ACO2 p.Gln702fs Pathogenic ★★ same type
- ACO2 p.Lys520fs Pathogenic/Likely pathogenic ★★ same type
- ACO2 p.Ser614del Uncertain significance ★★ same type
- ACO2 c.1953+17del Likely benign ★★ same type
- ACO2 p.Ala675fs Pathogenic ★ same type
- ACO2 p.Arg656fs Pathogenic ★ same type
- ACO2 p.Asn317_Leu318insTer Pathogenic ★ same type
- ACO2 p.Asn634fs Likely pathogenic ★ 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-glu750fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown