ELAC2 p.Pro26fs
c.77_89del · VCV3616468
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
combined oxidative phosphorylation defect type 17
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.71 | GERP 1, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ELAC2
- Protein
- p.Pro26fs
- Coding
- c.77_89del
- MANE Select
- NM_018127
- Type
- Deletion
- Location
- chr17:13017859 (GRCh38)
- Gene constraint
- LOEUF 1.02 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.81 · 10 PDB
- Residue 26
- the 'disordered' region
Disease context
combined oxidative phosphorylation defect type 17 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Combined oxidative phosphorylation defect type 17 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ELAC2 p.Pro26= Likely benign ★ same residue
- ELAC2 p.Cys670fs Pathogenic ★★ same condition
- ELAC2 p.Ile153fs Pathogenic ★★ same condition
- ELAC2 p.Met715fs Pathogenic/Likely pathogenic ★★ same condition
- ELAC2 c.432+1del Uncertain significance ★★ same condition
- ELAC2 c.797+14del Benign/Likely benign ★★ same condition
- ELAC2 c.2109-6_2111del Likely pathogenic ★ same condition
- ELAC2 p.Ala11fs 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/elac2-p-pro26fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown