TAB2 p.Arg691=
c.2073G>A · rs652921 · VCV1241569
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 49.2%, eas) — too common for a highly-penetrant pathogenic allele
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 5.9 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 7.852 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
49.2%
East Asian · 22,087/44,866 alleles
Filtering AF
48.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 48.5%
Overall
12.4%
200,782/1,613,838 alleles · common
exomes 182,306/1,461,698 · genomes 18,476/152,140 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 49.2% | 2 |
| Admixed American | 28.6% | 3 |
| South Asian | 20.5% | 5 |
| Remaining individualsnot grpmax-eligible | 13.9% | 7 |
| Middle Eastern | 12.5% | 8 |
| Ashkenazi Jewishnot grpmax-eligible | 12.1% | 8 |
| Finnishnot grpmax-eligible | 11.9% | 8 |
| European (non-Finnish) | 9.99% | 10 |
| African / African-American | 5.72% | 17 |
| Amishnot grpmax-eligible | 0.44% | 228 |
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.Arg691=
- Coding
- c.2073G>A
- MANE Select
- NM_001292034
- dbSNP
- rs652921
- Type
- single nucleotide variant
- Location
- chr6:149409710 (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-p-arg691 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown