FUS p.Ser439fs
c.1316_1317del · VCV4929590
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FUS
- Protein
- p.Ser439fs
- Coding
- c.1316_1317del
- MANE Select
- NM_004960
- Type
- Microsatellite
- Location
- chr16:31190762 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
Similar variants
- FUS p.Ser439= Conflicting classifications of pathogenicity ★ same residue
- FUS p.Gln519fs Pathogenic ★★ same type
- FUS p.Gly504fs Pathogenic ★★ same type
- FUS p.Gly228_Gly231del Uncertain significance ★★ same type
- FUS p.Ser165del Uncertain significance ★★ same type
- FUS c.518_523del Benign/Likely benign ★★ same type
- FUS c.521_523+3dupGAGGTG Benign/Likely benign ★★ same type
- FUS p.Gly231del 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/fus-p-ser439fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown