ACBD3 p.Ala7=
c.21A>T · rs77797743 · VCV780305
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 4.64%, 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 -7.7 | GERP -3.4 |
| Overall | ||
| CADD | 3.574 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.64%
African / African-American · 3,259/70,180 alleles
Filtering AF
4.51%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.46%
Overall
0.236%
3,570/1,510,822 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.64% | 22 |
| Admixed American | 0.24% | 417 |
| Remaining individualsnot grpmax-eligible | 0.24% | 417 |
| Middle Eastern | 0.0825% | 1,213 |
| European (non-Finnish) | 0.00405% | 24,700 |
| South Asian | 0.00244% | 41,058 |
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
- ACBD3
- Protein
- p.Ala7=
- Coding
- c.21A>T
- MANE Select
- NM_022735
- dbSNP
- rs77797743
- Type
- single nucleotide variant
- Location
- chr1:226186655 (GRCh38)
- Gene constraint
- LOEUF 0.634 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.50 · 12 PDB
- Residue 7
- the 'disordered' region
Similar variants
- ACBD3 p.Ala177Glu Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala177Val Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala371Val Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala3Thr Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala442Asp Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala63Val Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala90Gly Uncertain significance ★ ⚠ same type
- ACBD3 p.Ala90Thr 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/acbd3-p-ala7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown