ABCA4 p.Trp1461fs
c.4377del · VCV3648216
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 30 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.69 | GERP -2.7, phastCons 0.66 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCA4
- Protein
- p.Trp1461fs
- Coding
- c.4377del
- MANE Select
- NM_000350
- Type
- Deletion
- Location
- chr1:94029607 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 1461
- 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); a UniProt-annotated variant site (found in a patient with macular dystrophy; uncertain significance); an α-helix
Similar variants
- ABCA4 p.Trp1461Ter Pathogenic ★★ same residue
- ABCA4 p.Trp1461Arg Pathogenic ★ same residue
- ABCA4 p.Trp1461Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
- ABCA4 p.Ala960fs Pathogenic ★★★ same type
- ABCA4 p.Asp279fs Pathogenic ★★★ same type
- ABCA4 p.Gly1972_Val1973insTer Pathogenic ★★★ same type
- ABCA4 p.Gly963fs Pathogenic ★★★ same type
- ABCA4 p.Leu1741fs 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/abca4-p-trp1461fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown