ACADS p.Arg8=
c.22C>A · rs777704501 · VCV3051502
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00239%, eas)
Conditions
1
ACADS-related disorder
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 0.69 | GERP -0.53, phastCons 0.36 |
| Overall | ||
| CADD | 10.72 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00239%
East Asian · 1/41,880 alleles
Overall
0.000257%
4/1,556,266 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00239% | 41,880 |
| African / African-American | 0.00139% | 72,052 |
| South Asian | 0.00117% | 85,420 |
| European (non-Finnish) | 8.62e-05% | 1,160,534 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ACADS
- Protein
- p.Arg8=
- Coding
- c.22C>A
- MANE Select
- NM_000017
- dbSNP
- rs777704501
- Type
- single nucleotide variant
- Location
- chr12:120725907 (GRCh38)
- Gene constraint
- LOEUF 0.852 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.58 · 4 PDB
Disease context
ACADS-related disorder
Similar variants
- ACADS p.Ala199Val Likely pathogenic ★★ ⚠ same condition
- ACADS p.Arg107Cys Pathogenic ★★ ⚠ same condition
- ACADS p.Arg380Trp Pathogenic/Likely pathogenic ★★ same condition
- ACADS p.Arg383Cys Pathogenic/Likely pathogenic ★★ same condition
- ACADS p.Arg46Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ACADS p.Gln365His Pathogenic/Likely pathogenic ★★ same condition
- ACADS p.Glu344Gly Pathogenic/Likely pathogenic ★★ same condition
- ACADS p.Pro55Leu Pathogenic/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/acads-p-arg8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown