TRIM28 p.Arg795=
c.2385C>T · rs776135251 · VCV3036483
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00788%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -0.57, phastCons 1 |
| Overall | ||
| CADD | 11.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00788%
European (non-Finnish) · 93/1,180,026 alleles
Filtering AF
0.00656%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00608%
Overall
0.00583%
94/1,613,728 alleles · very rare
exomes 86/1,461,538 · genomes 8/152,190 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00788% | 12,688 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,480 |
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
- TRIM28
- Protein
- p.Arg795=
- Coding
- c.2385C>T
- MANE Select
- NM_005762
- dbSNP
- rs776135251
- Type
- single nucleotide variant
- Location
- chr19:58550430 (GRCh38)
- Gene constraint
- LOEUF 0.17 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 67.59 · 10 PDB
- Residue 795
- a UniProt-annotated variant site (risk factor for wt7); an α-helix; the bromo domain
Similar variants
- TRIM28 p.Arg795Cys Uncertain significance ★★ ⚠ same residue
- TRIM28 p.Ala537Val Uncertain significance ★★ ⚠ same type
- TRIM28 p.Arg412His Uncertain significance ★★ ⚠ same type
- TRIM28 p.Arg706Cys Uncertain significance ★★ ⚠ same type
- TRIM28 p.Arg767His Uncertain significance ★★ ⚠ same type
- TRIM28 p.Asp231Tyr Uncertain significance ★★ ⚠ same type
- TRIM28 p.Glu798Asp Uncertain significance ★★ ⚠ same type
- TRIM28 p.Gly735Ala 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/trim28-p-arg795 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown