IMPG2 p.Ser191Ter
c.572C>G · rs1706843510 · VCV866954
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
IMPG2-related disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 19 |
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>A here scores Δ0.39 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 9.4 | phastCons 1 |
| Overall | ||
| CADD | 38.0 | 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
- IMPG2
- Protein
- p.Ser191Ter
- Coding
- c.572C>G
- MANE Select
- NM_016247
- dbSNP
- rs1706843510
- Type
- single nucleotide variant
- Location
- chr3:101276675 (GRCh38)
- Gene constraint
- LOEUF 0.773 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.28
- Residue 191
- a UniProt-annotated variant site (in rp56); the 'disordered' region
Disease context
IMPG2-related disorders
Similar variants
- IMPG2 p.Ser191Leu Uncertain significance ★ ⚠ same residue
- IMPG2 p.Ser191= Likely benign ★ same residue
- IMPG2 c.1240-1G>A Likely pathogenic ★★ same condition
- IMPG2 c.1240-2A>G Pathogenic/Likely pathogenic ★★ same condition
- IMPG2 c.502-2A>G Likely pathogenic ★★ same condition
- IMPG2 c.667-1G>A Pathogenic/Likely pathogenic ★★ same condition
- IMPG2 c.829-1G>T Pathogenic/Likely pathogenic ★★ same condition
- IMPG2 p.Arg1088Ter Pathogenic/Likely pathogenic ★★ 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/impg2-p-ser191ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown