FUS p.Gly482=
c.1446C>T · rs112061837 · VCV665814
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0166%, mid)
Conditions
2
tremor, hereditary essential, 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Pangolin | Δ0.27 | gain · loss 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP -2.2 | GERP -3.4 |
| Overall | ||
| CADD | 12.38 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0166%
Middle Eastern · 1/6,034 alleles
Filtering AF
0.000292%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000211%
Overall
0.000682%
11/1,613,428 alleles · ultra-rare
exomes 11/1,461,564 · genomes 0/151,864 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0166% | 6,034 |
| East Asian | 0.00223% | 44,854 |
| South Asian | 0.0011% | 91,018 |
| European (non-Finnish) | 0.000678% | 147,480 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FUS
- Protein
- p.Gly482=
- Coding
- c.1446C>T
- MANE Select
- NM_004960
- dbSNP
- rs112061837
- Type
- single nucleotide variant
- Location
- chr16:31191015 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 482
- the 'disordered' region
Similar variants
- FUS p.Arg481Ter Pathogenic/Likely pathogenic ★★ same condition
- FUS p.Arg495Ter Pathogenic ★★ same condition
- FUS p.Arg514Gly Pathogenic ★★ ⚠ same condition
- FUS p.Arg521Cys Pathogenic ★★ same condition
- FUS p.Arg521Gly Pathogenic ★★ same condition
- FUS p.Arg521His Pathogenic ★★ ⚠ same condition
- FUS p.Arg521Leu Pathogenic/Likely pathogenic ★★ same condition
- FUS p.Lys510Glu Pathogenic/Likely pathogenic ★★ ⚠ same condition
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-gly482 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown