Is ACADSB c.992del pathogenic?

ACADSB c.992del is classified Likely pathogenic in ACADSB (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-21). Associated with 2-methylbutyryl-CoA dehydrogenase deficiency.

What condition is associated with ACADSB c.992del?

ACADSB c.992del is associated with 2-methylbutyryl-CoA dehydrogenase deficiency (ClinVar).

How is 2-methylbutyryl-CoA dehydrogenase deficiency inherited?

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

ACADSB c.992del

VCV3591236

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

2-methylbutyryl-CoA dehydrogenase deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2, phastCons 1

Variant & gene context

Gene: ACADSB
Coding: c.992del
MANE Select: NM_001609
Type: Deletion
Location: chr10:123051048 (GRCh38)
Gene constraint: LOEUF 0.891 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 91.47 · 1 PDB

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

Disease context

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

For 2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

ACADSB p.Ala160fs Pathogenic/Likely pathogenic ★★ same condition
ACADSB c.1128+21_1128+26del Benign/Likely benign ★★ same condition
ACADSB c.1128+24_1128+26del Likely benign ★★ same condition
ACADSB c.1128+25_1128+26del Benign/Likely benign ★★ same condition
ACADSB c.1128+26del Benign ★★ same condition
ACADSB c.1228+21del Benign ★★ same condition
ACADSB c.1128+1_1128+3del Likely pathogenic ★ same condition
ACADSB p.Arg405fs 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/acadsb-c-992del (accessed [today's date]).

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