ACSS2 p.Ala307=
c.921C>T · rs57092223 · VCV3039685
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.653%, mid)
Conditions
1
ACSS2-related disorder
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 -3.2 | GERP -4.3 |
| Overall | ||
| CADD | 8.048 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.653%
Middle Eastern · 31/4,750 alleles
Filtering AF
0.516%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.5%
Overall
0.0665%
1,072/1,611,488 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.653% | 153 |
| South Asian | 0.556% | 180 |
| Ashkenazi Jewishnot grpmax-eligible | 0.206% | 485 |
| Admixed American | 0.137% | 731 |
| Remaining individualsnot grpmax-eligible | 0.104% | 959 |
| European (non-Finnish) | 0.0263% | 3,806 |
| African / African-American | 0.0228% | 4,386 |
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
- ACSS2
- Protein
- p.Ala307=
- Coding
- c.921C>T
- MANE Select
- NM_018677
- dbSNP
- rs57092223
- Type
- single nucleotide variant
- Location
- chr20:34919521 (GRCh38)
- Gene constraint
- LOEUF 0.785 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.14
Disease context
ACSS2-related disorder
Similar variants
- ACSS2 p.Arg153Gln Uncertain significance ⚠ same condition
- ACSS2 p.Arg696His Uncertain significance same condition
- ACSS2 p.Asp309= Likely benign same condition
- ACSS2 p.His252= Benign same condition
- ACSS2 p.Lys342= Likely benign same condition
- ACSS2 p.Pro486= Likely benign same condition
- ACSS2 p.Thr137= Likely benign same condition
- ACSS2 p.Thr628= Likely benign 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/acss2-p-ala307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown