ACLY p.Gly155=
c.465C>A · rs387907384 · VCV64472
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0351%, sas)
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 -3.7 | GERP -4.3 |
| Overall | ||
| CADD | 0.827 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0351%
South Asian · 32/91,074 alleles
Filtering AF
0.0256%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0222%
Overall
0.00211%
34/1,614,074 alleles · ultra-rare
exomes 34/1,461,890 · genomes 0/152,184 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0351% | 2,846 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,254 |
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.Gly155=
- Coding
- c.465C>A
- MANE Select
- NM_001096
- dbSNP
- rs387907384
- Type
- single nucleotide variant
- Location
- chr17:41909581 (GRCh38)
- Gene constraint
- LOEUF 0.401 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.61 · 36 PDB
- Residue 155
- the atp-grasp domain; a β-strand
Similar variants
- ACLY p.Gln314= Benign ★★ same type
- ACLY p.Val286= 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
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-gly155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown