ACTG1 p.Ile282fs
c.843dup · VCV3375891
Uncertain significance
Single submitter
Classification
Uncertain significance
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 5 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 1.9, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACTG1
- Protein
- p.Ile282fs
- Coding
- c.843dup
- MANE Select
- NM_001614
- Type
- Duplication
- Location
- chr17:81511067 (GRCh38)
- Gene constraint
- LOEUF 0.617 · pLI 0.46 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44 · 11 PDB
- Residue 282
- an α-helix
Similar variants
- ACTG1 p.Ile282= Likely benign ★ same residue
- ACTG1 c.985-5dup Likely benign ★★ same type
- ACTG1 p.Arg254_Ala260dup Likely pathogenic ★ same type
- ACTG1 p.Arg116fs Uncertain significance ★ same type
- ACTG1 p.Met47_Gly48insValGlyMet Uncertain significance ★ same type
- ACTG1 c.124-20_124-16dup Likely benign ★ same type
- ACTG1 c.124-20_124-19dup Likely benign ★ same type
- ACTG1 c.124-6dup 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/actg1-p-ile282fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown