TBL2 p.Ala332=
c.996C>T · rs146437532 · VCV771724
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.01%, amr)
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 0.048 | GERP -3 |
| Overall | ||
| CADD | 5.221 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.01%
Admixed American · 606/60,020 alleles
Filtering AF
0.943%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.917%
Overall
0.655%
10,566/1,613,702 alleles · low-frequency
exomes 9,754/1,461,388 · genomes 812/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 1.01% | 99 |
| European (non-Finnish) | 0.778% | 128 |
| Remaining individualsnot grpmax-eligible | 0.654% | 153 |
| Finnishnot grpmax-eligible | 0.285% | 351 |
| Ashkenazi Jewishnot grpmax-eligible | 0.24% | 417 |
| Middle Eastern | 0.148% | 674 |
| African / African-American | 0.133% | 751 |
| East Asian | 0.00446% | 22,438 |
| South Asian | 0.00329% | 30,358 |
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
- TBL2
- Protein
- p.Ala332=
- Coding
- c.996C>T
- MANE Select
- NM_012453
- dbSNP
- rs146437532
- Type
- single nucleotide variant
- Location
- chr7:73570855 (GRCh38)
- Gene constraint
- LOEUF 1.054 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.11
Similar variants
- TBL2 p.Ala189= Benign/Likely benign ★★ same type
- TBL2 p.Gln229= Benign ★★ same type
- TBL2 p.Glu135= Benign ★★ same type
- TBL2 p.Glu257Ala Benign ★★ same type
- TBL2 c.599-7C>A Uncertain significance ★ same type
- TBL2 p.Ala139Thr Uncertain significance ★ ⚠ same type
- TBL2 p.Ala139Val Uncertain significance ★ ⚠ same type
- TBL2 p.Ala189Val 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/tbl2-p-ala332 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown