ACBD5 p.Ser428=
c.1284C>T · rs778319933 · VCV1099144
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0823%, mid)
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 -9.3 | GERP -3.6 |
| Overall | ||
| CADD | 1.423 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0823%
Middle Eastern · 5/6,076 alleles
Filtering AF
0.0323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.021%
Overall
0.0026%
42/1,614,042 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0823% | 1,215 |
| Admixed American | 0.00333% | 29,997 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,242 |
| European (non-Finnish) | 0.00263% | 38,066 |
| South Asian | 0.0022% | 45,544 |
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.Ser428=
- Coding
- c.1284C>T
- MANE Select
- NM_145698
- dbSNP
- rs778319933
- Type
- single nucleotide variant
- Location
- chr10:27208366 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
- Residue 428
- a modified residue (phosphoserine); the 'disordered' region
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-ser428 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown