Is ACADS p.Pro19fs (c.54dup) pathogenic?

ACADS p.Pro19fs (c.54dup) is classified Likely pathogenic in ACADS (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-10). No gnomAD frequency available for this variant; Associated with short chain acyl-CoA dehydrogenase deficiency.

What condition is associated with ACADS p.Pro19fs (c.54dup)?

ACADS p.Pro19fs (c.54dup) is associated with short chain acyl-CoA dehydrogenase deficiency (ClinVar).

How common is ACADS p.Pro19fs (c.54dup) in the general population?

ACADS p.Pro19fs (c.54dup) is no gnomAD frequency available for this variant (gnomAD).

How is Short chain acyl-CoA dehydrogenase deficiency inherited?

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

ACADS p.Pro19fs

c.54dup · rs2501155182 · VCV1725158

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

short chain acyl-CoA dehydrogenase 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 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.38	GERP -2.9

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: ACADS
Protein: p.Pro19fs
Coding: c.54dup
MANE Select: NM_000017
dbSNP: rs2501155182
Type: Duplication
Location: chr12:120727032 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.58 · 4 PDB

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

Disease context

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

For Short chain acyl-CoA dehydrogenase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal

Similar variants

ACADS p.Leu304fs Pathogenic/Likely pathogenic ★★ same condition
ACADS p.Ala172fs Pathogenic ★ same condition
ACADS p.Glu36fs Pathogenic ★ same condition
ACADS c.1030-3_1044dup Uncertain significance ★ same condition
ACADS p.Thr37fs Conflicting classifications of pathogenicity ★ same condition
ACADS p.Ala13fs Likely pathogenic same condition
ACADS p.Lys226fs Likely pathogenic same condition
ACADS p.Met317_Ala318dup Uncertain significance 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/acads-p-pro19fs (accessed [today's date]).

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