ACLY p.Val286=
c.858C>T · rs115877497 · VCV715695
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.888%, afr)
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 -5.5 | GERP -4.7 |
| Overall | ||
| CADD | 2.227 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.888%
African / African-American · 666/75,018 alleles
Filtering AF
0.832%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.81%
Overall
0.0451%
728/1,614,036 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.888% | 113 |
| Remaining individualsnot grpmax-eligible | 0.0512% | 1,953 |
| Admixed American | 0.0367% | 2,728 |
| European (non-Finnish) | 0.000678% | 147,495 |
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
- ACLY
- Protein
- p.Val286=
- Coding
- c.858C>T
- MANE Select
- NM_001096
- dbSNP
- rs115877497
- Type
- single nucleotide variant
- Location
- chr17:41906536 (GRCh38)
- Gene constraint
- LOEUF 0.401 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.61 · 36 PDB
- Residue 286
- an α-helix
Similar variants
- ACLY p.Gln314= Benign ★★ same type
- ACLY p.Ala1032Thr Uncertain significance ★ ⚠ same type
- ACLY p.Ala173Ser Uncertain significance ★ ⚠ same type
- ACLY p.Ala173Thr Uncertain significance ★ ⚠ same type
- ACLY p.Ala24Thr Uncertain significance ★ ⚠ same type
- ACLY p.Ala432Thr Uncertain significance ★ ⚠ same type
- ACLY p.Ala461Val Uncertain significance ★ ⚠ same type
- ACLY p.Ala467Thr 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/acly-p-val286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown