ABCA4 p.Asp1093fs
c.3275_3276insTGGAGGGGGT · VCV3658230
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 22 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP 0.65, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCA4
- Protein
- p.Asp1093fs
- Coding
- c.3275_3276insTGGAGGGGGT
- MANE Select
- NM_000350
- Type
- Insertion
- Location
- chr1:94042813 (GRCh38)
- Gene constraint
- LOEUF 0.786 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.96 · 8 PDB
- Residue 1093
- 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); the abc transporter 1 domain; a disulfide bond
Similar variants
- ABCA4 p.Asp1093Glu Pathogenic/Likely pathogenic ★★ same residue
- ABCA4 p.Asp1093Asn Pathogenic ★ same residue
- ABCA4 p.Asp1093Val Likely pathogenic ★ same residue
- ABCA4 p.Asp1093= Likely benign ★ same residue
- ABCA4 p.Leu1070fs Pathogenic ★★★ same type
- ABCA4 p.Lys1536Ter Pathogenic ★★★ same type
- ABCA4 c.1356+11_1356+12insG Likely benign ★★★ same type
- ABCA4 c.1356+5_1356+6insT Uncertain significance ★★ 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-asp1093fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown