ACBD5 p.Arg24fs
c.70_73del · VCV3694654
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACBD5
- Protein
- p.Arg24fs
- Coding
- c.70_73del
- MANE Select
- NM_145698
- Type
- Deletion
- Location
- chr10:27240427 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.49 · 1 PDB
Similar variants
- ACBD5 p.Arg24Ile Uncertain significance ★ ⚠ same residue
- ACBD5 p.Arg24Lys Uncertain significance ★ ⚠ same residue
- ACBD5 c.937-1del Likely pathogenic ★ same type
- ACBD5 p.Cys18fs Pathogenic ★ same type
- ACBD5 p.Leu4fs Pathogenic ★ same type
- ACBD5 p.Lys154fs Pathogenic ★ same type
- ACBD5 p.Ser155fs Likely pathogenic ★ same type
- ACBD5 c.1455+20del Benign ★ 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-arg24fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown