ACBD5 p.Gly9=
c.27C>T · rs776818292 · VCV1927429
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00674%, amr)
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 9.7 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 17.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00674%
Admixed American · 4/59,386 alleles
Filtering AF
0.00227%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00136%
Overall
0.000248%
4/1,611,084 alleles · very rare
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.Gly9=
- Coding
- c.27C>T
- MANE Select
- NM_145698
- dbSNP
- rs776818292
- Type
- single nucleotide variant
- Location
- chr10:27240473 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
Similar variants
- ACBD5 p.Gly9Val Uncertain significance ★ ⚠ same residue
- 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
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-gly9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown