Is ACADS p.Ser395fs (c.1182del) pathogenic?

ACADS p.Ser395fs (c.1182del) is classified Uncertain significance in ACADS (ClinVar, No assertion criteria, 1 submitter; last evaluated 2017-04-14). Absent from gnomAD; Associated with short chain acyl-CoA dehydrogenase deficiency.

What condition is associated with ACADS p.Ser395fs (c.1182del)?

ACADS p.Ser395fs (c.1182del) is associated with short chain acyl-CoA dehydrogenase deficiency (ClinVar).

How common is ACADS p.Ser395fs (c.1182del) in the general population?

ACADS p.Ser395fs (c.1182del) is absent from gnomAD (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.Ser395fs

c.1182del · rs1555244432 · VCV551521

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

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	escapes	premature termination codon in the last exon (10 of 10) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 2.1, 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: ACADS
Protein: p.Ser395fs
Coding: c.1182del
MANE Select: NM_000017
dbSNP: rs1555244432
Type: Deletion
Location: chr12:120739390 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.58 · 4 PDB
Residue 395: a binding site; an α-helix

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.Ser395= Likely benign ★ same residue
ACADS p.Ala165fs Pathogenic/Likely pathogenic ★★ same condition
ACADS p.Glu228fs Pathogenic ★★ same condition
ACADS p.Ala315del Uncertain significance ★★ same condition
ACADS p.Lys51del Uncertain significance ★★ same condition
ACADS p.Ala378fs Likely pathogenic ★ same condition
ACADS p.Asn188fs Pathogenic ★ same condition
ACADS p.Glu389fs 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/acads-p-ser395fs (accessed [today's date]).

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