ETFA p.Lys232fs
c.694_698del · VCV4817477
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Glutaric acidemia type 2A
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 8 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.11 | GERP 0.79, phastCons 0.046 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ETFA
- Protein
- p.Lys232fs
- Coding
- c.694_698del
- MANE Select
- NM_000126
- Type
- Deletion
- Location
- chr15:76283792 (GRCh38)
- Gene constraint
- LOEUF 1.166 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.00 · 4 PDB
- Residue 232
- the 'domain ii' region; a modified residue (n6-acetyllysine; alternate); a modified residue (n6-succinyllysine; alternate); an α-helix
Disease context
Glutaric acidemia type 2A
Similar variants
- ETFA c.658_664+3del Likely pathogenic ★★ same condition
- ETFA p.Leu67_Cys68insTer Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Lys232Ter Pathogenic/Likely pathogenic ★★ same residue
- ETFA c.664+1_664+2del Likely pathogenic ★ same condition
- ETFA c.-64_39+1del Likely pathogenic ★ same condition
- ETFA p.Gln240fs Likely pathogenic ★ same condition
- MADD p.Asp152fs Likely pathogenic ★ same condition
- MADD p.Lys1361fs 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/etfa-p-lys232fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown