TAB2 c.*286A>C
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.33%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.43 | GERP -3.9 |
| Non-coding constraint | Z 0.17 | 1 kb window · o/e 0.99 · regional · uncalibrated |
| Overall | ||
| CADD | 0.598 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.33%
African / African-American · 1,195/51,186 alleles
Filtering AF
2.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.18%
Overall
0.284%
1,328/468,234 alleles · low-frequency
exomes 292/315,872 · genomes 1,036/152,362 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.33% | 43 |
| Middle Eastern | 0.486% | 206 |
| Remaining individualsnot grpmax-eligible | 0.236% | 424 |
| Admixed American | 0.186% | 539 |
| South Asian | 0.00941% | 10,628 |
| European (non-Finnish) | 0.00814% | 12,291 |
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
- Coding
- c.*286A>C
- MANE Select
- NM_001292034
- dbSNP
- rs34532338
- Type
- single nucleotide variant
- Location
- chr6:149410005 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.24 · 6 PDB
Similar variants
- TAB2 c.1604-2A>G Pathogenic/Likely pathogenic ★★ same type
- TAB2 c.1764+1G>A Pathogenic/Likely pathogenic ★★ same type
- TAB2 p.Arg546Ter Pathogenic/Likely pathogenic ★★ same type
- TAB2 p.Arg574Ter Likely pathogenic ★★ same type
- TAB2 p.Ala618Val Uncertain significance ★★ ⚠ same type
- TAB2 p.Arg173Lys Uncertain significance ★★ ⚠ same type
- TAB2 p.Arg17Gln Uncertain significance ★★ ⚠ same type
- TAB2 p.Arg576Cys Uncertain significance ★★ ⚠ 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-c-star-286a-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown