FUS p.Ser205=
c.615C>T · VCV4929585
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00446%, eas)
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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.091 | GERP -3.1, phastCons 0.71 |
| Overall | ||
| CADD | 5.626 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00446%
East Asian · 2/44,862 alleles
Filtering AF
0.000739%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000276%
Overall
0.00062%
10/1,612,452 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00446% | 22,431 |
| Admixed American | 0.00168% | 59,684 |
| European (non-Finnish) | 0.000594% | 168,487 |
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.Ser205=
- Coding
- c.615C>T
- MANE Select
- NM_004960
- Type
- single nucleotide variant
- Location
- chr16:31185030 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 205
- the 'disordered' region
Similar variants
- FUS p.Ser205_Gly207del Uncertain significance ★ same residue
- FUS p.Arg481Ter Pathogenic/Likely pathogenic ★★ same type
- FUS p.Arg495Ter Pathogenic ★★ same type
- FUS p.Arg514Gly Pathogenic ★★ ⚠ same type
- FUS p.Arg521Cys Pathogenic ★★ same type
- FUS p.Arg521Gly Pathogenic ★★ same type
- FUS p.Arg521His Pathogenic ★★ ⚠ same type
- FUS p.Arg521Leu Pathogenic/Likely 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-ser205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown