AGO2 p.Arg196Ter
c.586C>T · rs1005112700 · VCV1687559
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Lessel-Kreienkamp syndrome
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP -0.29, phastCons 1 |
| Overall | ||
| CADD | 40.0 | 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
- AGO2
- Protein
- p.Arg196Ter
- Coding
- c.586C>T
- MANE Select
- NM_012154
- dbSNP
- rs1005112700
- Type
- single nucleotide variant
- Location
- chr8:140560443 (GRCh38)
- Gene constraint
- LOEUF 0.102 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.82 · 71 PDB
- Residue 196
- a β-strand
Similar variants
- AGO2 p.Cys751Tyr Pathogenic/Likely pathogenic ★★ same condition
- AGO2 p.Gly201Val Pathogenic/Likely pathogenic ★★ same condition
- AGO2 p.Gly604Arg Pathogenic/Likely pathogenic ★★ same condition
- AGO2 p.Thr357Met Pathogenic/Likely pathogenic ★★ same condition
- AGO2 p.Arg630His Uncertain significance ★★ ⚠ same condition
- AGO2 p.Asp89Glu Uncertain significance ★★ ⚠ same condition
- AGO2 p.Pro602Arg Uncertain significance ★★ ⚠ same condition
- AGO2 p.Gln360His 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/ago2-p-arg196ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown