GABRB2 p.Arg293fs
c.872_876dup · VCV3343258
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -0.74, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GABRB2
- Protein
- p.Arg293fs
- Coding
- c.872_876dup
- MANE Select
- NM_001371727
- Type
- Duplication
- Location
- chr5:161331083 (GRCh38)
- Gene constraint
- LOEUF 0.426 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.65 · 31 PDB
- Residue 293
- a UniProt-annotated variant site (in iecee2; uncertain significance); an α-helix
Similar variants
- GABRB2 p.Arg293Trp Pathogenic/Likely pathogenic ★★ same residue
- GABRB2 p.Arg293Gln Likely pathogenic ★ same residue
- GABRB2 p.Arg293Pro Pathogenic ★ same residue
- GABRB2 c.238-14dup Benign/Likely benign ★★ same type
- GABRB2 c.-152-8dup Benign ★★ same type
- GABRB2 p.Glu294fs Uncertain significance ★ same type
- GABRB2 c.170-161_170-160dup Benign ★ same type
- GABRB2 c.170-161dup Benign ★ 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/gabrb2-p-arg293fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown