AGBL5 p.Ala107fs
c.319del · VCV3248901
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
inherited retinal dystrophy
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 3 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8 | GERP 2.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AGBL5
- Protein
- p.Ala107fs
- Coding
- c.319del
- MANE Select
- NM_021831
- Type
- Deletion
- Location
- chr2:27053504 (GRCh38)
- Gene constraint
- LOEUF 0.709 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.36 · 10 PDB
- Residue 107
- a UniProt-annotated variant site (found in patients with a usher-like phenotype encompassing rp and hearing loss; likely pathogenic)
Similar variants
- AGBL5 p.Trp592Ter Pathogenic ★★ same condition
- AGBL5 p.Arg147Cys Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg341His Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg487Gln Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg489His Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg537His Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg598His Uncertain significance ★★ ⚠ same condition
- AGBL5 p.Arg673Trp Uncertain significance ★★ ⚠ same condition
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/agbl5-p-ala107fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown