FUS p.Tyr136=
c.408T>C · rs1487903348 · VCV1737735
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
Conditions
1
Inborn genetic diseases
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 0.87 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 6.936 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,008 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000186%
3/1,614,120 alleles · very rare
exomes 3/1,461,870 · genomes 0/152,250 · 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.Tyr136=
- Coding
- c.408T>C
- MANE Select
- NM_004960
- dbSNP
- rs1487903348
- Type
- single nucleotide variant
- Location
- chr16:31184281 (GRCh38)
- Gene constraint
- LOEUF 0.104 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.96 · 23 PDB
- Residue 136
- 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-tyr136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown