ETFA p.Gly86fs
c.255dup · VCV4817470
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 3 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ETFA
- Protein
- p.Gly86fs
- Coding
- c.255dup
- MANE Select
- NM_000126
- Type
- Duplication
- Location
- chr15:76292631 (GRCh38)
- Gene constraint
- LOEUF 1.166 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.00 · 4 PDB
- Residue 86
- the 'domain i' region
Disease context
Glutaric acidemia type 2A
Similar variants
- ETFA p.Gln9fs Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Gly279fs Pathogenic/Likely pathogenic ★★ same condition
- MADD p.Asn837fs Likely pathogenic ★ same condition
- MADD p.Gln535fs Likely pathogenic ★ same condition
- MADD p.Asn770fs Conflicting classifications of pathogenicity ★ same condition
- ETFA c.658_664+3del Likely pathogenic ★★ same condition
- ETFA p.Arg122Lys Likely pathogenic ★★ same condition
- ETFA p.Arg18Ter Pathogenic/Likely 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-gly86fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown