ACAD9 p.Phe425fs
c.1272del · VCV4815582
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
acyl-CoA dehydrogenase 9 deficiency
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 12 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 0.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACAD9
- Protein
- p.Phe425fs
- Coding
- c.1272del
- MANE Select
- NM_014049
- Type
- Deletion
- Location
- chr3:128906243 (GRCh38)
- Gene constraint
- LOEUF 0.884 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.09 · 2 PDB
- Residue 425
- a β-strand
Disease context
acyl-CoA dehydrogenase 9 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Acyl-CoA dehydrogenase 9 deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- ACAD9 c.1359-45_1383del Likely pathogenic ★★ same condition
- ACAD9 c.151-1_151del Pathogenic/Likely pathogenic ★★ same condition
- ACAD9 c.1674_1692+34del Likely pathogenic ★★ same condition
- ACAD9 p.Glu173fs Pathogenic/Likely pathogenic ★★ same condition
- ACAD9 p.Ile319fs Pathogenic/Likely pathogenic ★★ same condition
- ACAD9 p.Leu6fs Pathogenic/Likely pathogenic ★★ same condition
- ACAD9 p.Phe120fs Pathogenic/Likely pathogenic ★★ same condition
- ACAD9 p.Thr449fs 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/acad9-p-phe425fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown