ABCA1 p.Arg282fs
c.843dup · VCV4727208
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 9 of 50 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP 0.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCA1
- Protein
- p.Arg282fs
- Coding
- c.843dup
- MANE Select
- NM_005502
- Type
- Duplication
- Location
- chr9:104840489 (GRCh38)
- Gene constraint
- LOEUF 0.563 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.50 · 7 PDB
- Residue 282
- an α-helix; a disulfide bond
Similar variants
- ABCA1 p.Arg282Ter Likely pathogenic ★ same residue
- ABCA1 p.Arg282Gln Uncertain significance ★ ⚠ same residue
- ABCA1 p.Arg282= Likely benign ★ same residue
- ABCA1 c.303-42_303-5dup Benign/Likely benign ★★ same type
- ABCA1 c.3104-5dup Benign/Likely benign ★★ same type
- ABCA1 c.5383-20_5383-17dup Benign ★★ same type
- ABCA1 c.5383-20_5383-18dup Benign/Likely benign ★★ same type
- ABCA1 c.5383-20_5383-19dup Benign/Likely benign ★★ 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/abca1-p-arg282fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown