FUS p.Arg495fs
c.1483dup · VCV4533182
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
nanophthalmos 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 14 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FUS
- Protein
- p.Arg495fs
- Coding
- c.1483dup
- MANE Select
- NM_004960
- Type
- Duplication
- Location
- chr16:31191050 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 495
- a modified residue (asymmetric dimethylarginine); the 'disordered' region
Similar variants
- FUS p.Arg495Ter Pathogenic ★★ same residue
- FUS p.Arg495Gln Uncertain significance ★ ⚠ same residue
- FUS p.Arg495= Likely benign ★ same residue
- FUS p.Gly247_Arg248insGly Uncertain significance ★★ same type
- FUS p.Gly458_Pro459insGly Uncertain significance ★★ same type
- FUS c.524-13dup Benign/Likely benign ★★ same type
- FUS p.Arg498fs Likely pathogenic ★ same type
- FUS p.Gly465fs 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/fus-p-arg495fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown