STAT2 p.Gln200Ter
c.598C>T · rs386352367 · VCV91964
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 24 |
| Splicing | ||
| SpliceAI | Δ0.24 | acceptor loss, 50 bp away · masked 0 · deltas |
| Pangolin | Δ0.43 | loss · gain 0.01 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.5, phastCons 1 |
| Overall | ||
| CADD | 36.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- STAT2
- Protein
- p.Gln200Ter
- Coding
- c.598C>T
- MANE Select
- NM_005419
- dbSNP
- rs386352367
- Type
- single nucleotide variant
- Location
- chr12:56354813 (GRCh38)
- Gene constraint
- LOEUF 0.497 · pLI 0.81 (gnomAD)
- Structure
- AlphaFold pLDDT 78.45 · 6 PDB
- Residue 200
- the 'mediates interaction with usp18' region; an α-helix
Similar variants
- STAT2 p.Arg667Ter Pathogenic/Likely pathogenic ★★ same type
- STAT2 p.Gln274Ter Pathogenic/Likely pathogenic ★★ same type
- STAT2 p.Ala219Thr Uncertain significance ★★ ⚠ same type
- STAT2 p.Ala302Thr Uncertain significance ★★ ⚠ same type
- STAT2 p.Arg300Cys Uncertain significance ★★ ⚠ same type
- STAT2 p.Arg330Gln Uncertain significance ★★ ⚠ same type
- STAT2 p.Arg409His Uncertain significance ★★ ⚠ same type
- STAT2 p.Arg510Gln Uncertain significance ★★ ⚠ 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/stat2-p-gln200ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown