FUS p.Gly249=
c.747A>C · rs763722654 · VCV3224534
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0179%, eas)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.101 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.2 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 10.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0179%
East Asian · 8/44,776 alleles
Filtering AF
0.00885%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00642%
Overall
0.000497%
8/1,610,138 alleles · ultra-rare
exomes 8/1,458,014 · genomes 0/152,124 · joint denominator
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.Gly249=
- Coding
- c.747A>C
- MANE Select
- NM_004960
- dbSNP
- rs763722654
- Type
- single nucleotide variant
- Location
- chr16:31185162 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 249
- the 'disordered' region
Similar variants
- FUS c.833-6A>G Uncertain significance ★★ same condition
- FUS p.Arg269Trp Uncertain significance ★★ ⚠ same condition
- FUS p.Arg472Cys Uncertain significance ★★ ⚠ same condition
- FUS p.Arg498Gln Uncertain significance ★★ same condition
- FUS p.Gln199Glu Uncertain significance ★★ ⚠ same condition
- FUS p.Gly515Ser Uncertain significance ★★ ⚠ same condition
- FUS p.Pro152Ser Uncertain significance ★★ ⚠ same condition
- FUS p.Tyr397Cys Uncertain significance ★★ ⚠ 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-gly249 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown