ACD p.Gly308=
c.924G>A · rs2543599430 · VCV1742588
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,613,636)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.91 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.68 | GERP -2.8 |
| Overall | ||
| CADD | 0.709 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,613,636). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ACD
- Protein
- p.Gly308=
- Coding
- c.924G>A
- MANE Select
- NM_001082486
- dbSNP
- rs2543599430
- Type
- single nucleotide variant
- Location
- chr16:67658268 (GRCh38)
- Gene constraint
- LOEUF 0.921 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.09 · 28 PDB
- Residue 308
- the 'disordered' region
Similar variants
- ACD p.Gly308Glu Benign/Likely benign ★★ same residue
- ACD c.-20C>T Uncertain significance ★★ same condition
- ACD c.-26T>G Uncertain significance ★★ same condition
- ACD c.-29C>A Uncertain significance ★★ same condition
- ACD c.-30C>T Uncertain significance ★★ same condition
- ACD c.-35C>T Uncertain significance ★★ same condition
- ACD c.-36C>G Uncertain significance ★★ same condition
- ACD c.-9G>T Uncertain significance ★★ 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/acd-p-gly308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown