TAB2 p.Glu591del
c.1768GAA[1] · rs781741565 · VCV2898468
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0179%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.55 | GERP -3.3, phastCons 0.022 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0179%
East Asian · 8/44,810 alleles
Filtering AF
0.00885%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00642%
Overall
0.000806%
13/1,613,162 alleles · ultra-rare
exomes 13/1,460,842 · genomes 0/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0179% | 5,601 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,223 |
| African / African-American | 0.00266% | 37,526 |
| South Asian | 0.0011% | 91,032 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TAB2
- Protein
- p.Glu591del
- Coding
- c.1768GAA[1]
- MANE Select
- NM_001292034
- dbSNP
- rs781741565
- Type
- Microsatellite
- Location
- chr6:149397972 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.24 · 6 PDB
Similar variants
- TAB2 p.Gln85fs Pathogenic ★ same type
- TAB2 p.Ile219fs Likely pathogenic ★ same type
- TAB2 c.1604-169_1604-168del Likely benign ★ same type
- TAB2 c.-89-16TTTC[4] 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/tab2-p-glu591del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown