ACADM p.Val169=
c.507A>G · rs769611742 · VCV1745192
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0133%, amr)
Conditions
2
Inborn genetic diseases
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 0.5 | GERP 0.58, phastCons 0.91 |
| Overall | ||
| CADD | 6.413 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0133%
Admixed American · 8/60,022 alleles
Filtering AF
0.00661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00482%
Overall
0.000548%
8/1,460,568 alleles · ultra-rare
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
- ACADM
- Protein
- p.Val169=
- Coding
- c.507A>G
- MANE Select
- NM_000016
- dbSNP
- rs769611742
- Type
- single nucleotide variant
- Location
- chr1:75740018 (GRCh38)
- Gene constraint
- LOEUF 1.072 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.15 · 7 PDB
- Residue 169
- an α-helix
Similar variants
- ACADM c.118+1G>T Likely pathogenic ★★ same condition
- ACADM c.1194+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ACADM c.1194+2T>G Likely pathogenic ★★ same condition
- ACADM c.216+1G>A Pathogenic ★★ same condition
- ACADM c.216+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ACADM c.216+2T>C Pathogenic ★★ same condition
- ACADM c.216+2T>G Pathogenic ★★ same condition
- ACADM c.217-1G>A 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/acadm-p-val169 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown