Is ACAD9 p.Asp62fs (c.184dup) pathogenic?

ACAD9 p.Asp62fs (c.184dup) is classified Pathogenic/Likely pathogenic in ACAD9 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-02-29). Absent from gnomAD; Associated with acyl-CoA dehydrogenase 9 deficiency.

What condition is associated with ACAD9 p.Asp62fs (c.184dup)?

ACAD9 p.Asp62fs (c.184dup) is associated with acyl-CoA dehydrogenase 9 deficiency (ClinVar).

How common is ACAD9 p.Asp62fs (c.184dup) in the general population?

ACAD9 p.Asp62fs (c.184dup) is absent from gnomAD (gnomAD).

How is Acyl-CoA dehydrogenase 9 deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ACAD9 p.Asp62fs

c.184dup · rs1935194749 · VCV1033254

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 2 of 18
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.8	GERP -2.2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ACAD9
Protein: p.Asp62fs
Coding: c.184dup
MANE Select: NM_014049
dbSNP: rs1935194749
Type: Duplication
Location: chr3:128884685 (GRCh38)
Gene constraint: LOEUF 0.884 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.09 · 2 PDB
Residue 62: an α-helix

Full ACAD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

acyl-CoA dehydrogenase 9 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Acyl-CoA dehydrogenase 9 deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal

Similar variants

ACAD9 p.Glu324fs Pathogenic/Likely pathogenic ★★ same condition
ACAD9 p.Leu606fs Pathogenic/Likely pathogenic ★★ same condition
ACAD9 p.Tyr354fs Pathogenic/Likely pathogenic ★★ same condition
ACAD9 p.Ala495fs Likely pathogenic ★ same condition
ACAD9 p.Arg414fs Likely pathogenic ★ same condition
ACAD9 p.Ile242fs Likely pathogenic ★ same condition
ACAD9 p.Leu416fs Likely pathogenic ★ same condition
ACAD9 p.Ser493fs 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-asp62fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown