ACADSB p.Asp328=
c.984T>C · VCV4726700
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
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 · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.096 | GERP -1, phastCons 0.84 |
| Overall | ||
| CADD | 2.033 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ACADSB
- Protein
- p.Asp328=
- Coding
- c.984T>C
- MANE Select
- NM_001609
- Type
- single nucleotide variant
- Location
- chr10:123047292 (GRCh38)
- Gene constraint
- LOEUF 0.891 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.47 · 1 PDB
- Residue 328
- an α-helix
Disease context
2-methylbutyryl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor 2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ACADSB c.1128+1G>A Likely pathogenic ★★ same condition
- ACADSB c.1228+1G>A Likely pathogenic ★★ same condition
- ACADSB c.303+3A>G Pathogenic/Likely pathogenic ★★ same condition
- ACADSB p.Cys308Tyr Pathogenic/Likely pathogenic ★★ same condition
- ACADSB p.Gln99Ter Pathogenic/Likely pathogenic ★★ same condition
- ACADSB p.Glu387Lys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ACADSB p.Gly410Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ACADSB p.Met389Val 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-p-asp328 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown