ABCA4 p.Arg508fs
c.1521del · VCV4900427
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ABCA4-related disorder
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 11 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP 1.8, phastCons 0.93 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCA4
- Protein
- p.Arg508fs
- Coding
- c.1521del
- MANE Select
- NM_000350
- Type
- Deletion
- Location
- chr1:94077723 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 508
- a UniProt-annotated variant site (in cord3; uncertain significance); a UniProt-annotated variant site (in stgd1; uncertain significance); a UniProt-annotated variant site (found in a patient with chorioretinal atrophy; uncertain significance); an α-helix; a disulfide bond
Similar variants
- ABCA4 c.4634+1del Pathogenic ★★ same condition
- ABCA4 c.5899-2del Pathogenic ★★ same condition
- ABCA4 c.6729+5_6729+19del Pathogenic/Likely pathogenic ★★ same condition
- ABCA4 p.Ala1324fs Pathogenic ★★ same condition
- ABCA4 p.Ala222fs Pathogenic ★★ same condition
- ABCA4 p.Arg1556fs Pathogenic/Likely pathogenic ★★ same condition
- ABCA4 p.Arg1705_Val1706insTer Pathogenic/Likely pathogenic ★★ same condition
- ABCA4 p.Arg1843_Gly1844del Pathogenic/Likely pathogenic ★★ 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/abca4-p-arg508fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown