TAB2 p.Gln123fs
c.366del · VCV4632541
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
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 3 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -3.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TAB2
- Protein
- p.Gln123fs
- Coding
- c.366del
- MANE Select
- NM_001292034
- Type
- Deletion
- Location
- chr6:149378279 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.24 · 6 PDB
- Residue 123
- the 'disordered' region
Similar variants
- TAB2 p.Ala618Val Uncertain significance ★★ ⚠ same condition
- TAB2 p.Arg72His Uncertain significance ★★ ⚠ same condition
- TAB2 p.Arg96Ser Uncertain significance ★★ same condition
- TAB2 p.Asn118Tyr Uncertain significance ★★ ⚠ same condition
- TAB2 p.Asn669Thr Uncertain significance ★★ ⚠ same condition
- TAB2 p.Gln209Lys Uncertain significance ★★ ⚠ same condition
- TAB2 p.Glu49Lys Uncertain significance ★★ ⚠ same condition
- TAB2 p.Glu93Lys 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/tab2-p-gln123fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown