STAT2 p.Met58fs
c.171_172insT · VCV4722763
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.47 | GERP -2.1, phastCons 0.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- STAT2
- Protein
- p.Met58fs
- Coding
- c.171_172insT
- MANE Select
- NM_005419
- Type
- Insertion
- Location
- chr12:56356245 (GRCh38)
- Gene constraint
- LOEUF 0.497 · pLI 0.81 (gnomAD)
- Structure
- AlphaFold pLDDT 78.45 · 6 PDB
- Residue 58
- an α-helix
Disease context
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy
Similar variants
- STAT2 c.1209+1del Pathogenic/Likely pathogenic ★★ same condition
- STAT2 p.Arg667Ter Pathogenic/Likely pathogenic ★★ same condition
- STAT2 p.Gln274Ter Pathogenic/Likely pathogenic ★★ same condition
- STAT2 p.Lys490fs Pathogenic/Likely pathogenic ★★ same condition
- STAT2 p.Ala219Thr Uncertain significance ★★ ⚠ same condition
- STAT2 p.Ala302Thr Uncertain significance ★★ ⚠ same condition
- STAT2 p.Arg300Cys Uncertain significance ★★ ⚠ same condition
- STAT2 p.Arg330Gln 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/stat2-p-met58fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown