AGBL5 p.Leu247fs
c.737_740dup · VCV4764192
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 6 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 2.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AGBL5
- Protein
- p.Leu247fs
- Coding
- c.737_740dup
- MANE Select
- NM_021831
- Type
- Duplication
- Location
- chr2:27055080 (GRCh38)
- Gene constraint
- LOEUF 0.709 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.36 · 10 PDB
- Residue 247
- the peptidase m14 domain; a UniProt-annotated variant site (found in patients with a usher-like phenotype encompassing rp and hearing loss; likely pathogenic); a β-strand
Similar variants
- AGBL5 c.2090-2dup Uncertain significance ★★ same type
- AGBL5 c.216-14dup Likely benign ★★ same type
- AGBL5 c.552-9dup Benign/Likely benign ★★ same type
- AGBL5 p.Ala428fs Pathogenic ★ same type
- AGBL5 p.Arg549fs Pathogenic ★ same type
- AGBL5 p.Asn625fs Pathogenic ★ same type
- AGBL5 p.His141fs Pathogenic ★ same type
- AGBL5 p.Lys423fs Likely pathogenic ★ 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/agbl5-p-leu247fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown