ACBD5 c.936+17C>A
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.75e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +17 | near-intronic (+17 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.29 | GERP -2.9, phastCons 0.012 |
| Overall | ||
| CADD | 9.367 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.75e-05%
European (non-Finnish) · 1/1,143,136 alleles
Overall
7.05e-05%
1/1,418,794 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
- Coding
- c.936+17C>A
- MANE Select
- NM_145698
- dbSNP
- rs2540738699
- Type
- single nucleotide variant
- Location
- chr10:27215518 (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-c-936-plus-17c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown