ACAD8 p.Arg12=
c.36C>G · rs995801278 · VCV744818
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00177%, amr)
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 -1.6 | GERP -2 |
| Overall | ||
| CADD | 5.419 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00177%
Admixed American · 1/56,422 alleles
Overall
0.00131%
2/152,196 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00177% | 56,422 |
| African / African-American | 0.00134% | 74,354 |
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
- ACAD8
- Protein
- p.Arg12=
- Coding
- c.36C>G
- MANE Select
- NM_014384
- dbSNP
- rs995801278
- Type
- single nucleotide variant
- Location
- chr11:134253636 (GRCh38)
- Gene constraint
- LOEUF 1.11 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.19 · 1 PDB
Similar variants
- ACAD8 p.Arg206Ter Pathogenic ★★ same type
- ACAD8 p.Arg296Ter Pathogenic ★★ same type
- ACAD8 p.Gly377Ser Pathogenic/Likely pathogenic ★★ same type
- ACAD8 p.Gly96Ser Pathogenic ★★ ⚠ same type
- ACAD8 p.Met128Ile Pathogenic/Likely pathogenic ★★ same type
- ACAD8 p.Met1Thr Pathogenic/Likely pathogenic ★★ same type
- ACAD8 c.841+6A>C Uncertain significance ★★ same type
- ACAD8 c.940-13C>G Uncertain significance ★★ same type
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/acad8-p-arg12 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown