ACBD5 p.Pro259=
c.777C>T · rs34037342 · VCV1168123
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 17.1%, afr) — too common for a highly-penetrant pathogenic allele
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 0.62 | GERP -1.3 |
| Overall | ||
| CADD | 1.753 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
17.1%
African / African-American · 12,850/74,996 alleles
Filtering AF
16.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 16.8%
Overall
3.92%
63,286/1,614,036 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 17.1% | 6 |
| East Asian | 10.5% | 10 |
| South Asian | 6.8% | 15 |
| Ashkenazi Jewishnot grpmax-eligible | 4.7% | 21 |
| Remaining individualsnot grpmax-eligible | 4.52% | 22 |
| Middle Eastern | 4.21% | 24 |
| European (non-Finnish) | 2.78% | 36 |
| Admixed American | 2.21% | 45 |
| Finnishnot grpmax-eligible | 1.53% | 65 |
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
- ACBD5
- Protein
- p.Pro259=
- Coding
- c.777C>T
- MANE Select
- NM_145698
- dbSNP
- rs34037342
- Type
- single nucleotide variant
- Location
- chr10:27218032 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
Similar variants
- ACBD5 p.Arg433Ter Pathogenic/Likely pathogenic ★★ same type
- ACBD5 p.Ala182Thr Uncertain significance ★★ ⚠ same type
- ACBD5 p.Arg384Trp Uncertain significance ★★ ⚠ same type
- ACBD5 p.Arg415Trp Uncertain significance ★★ ⚠ same type
- ACBD5 p.Asp429Asn Uncertain significance ★★ ⚠ same type
- ACBD5 p.Gln452His Uncertain significance ★★ ⚠ same type
- ACBD5 p.Glu312Lys Uncertain significance ★★ ⚠ same type
- ACBD5 p.Glu493Lys 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/acbd5-p-pro259 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown