TRIM28 p.Phe800=
c.2400C>T · VCV3632823
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0254%, 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 -1.3 | GERP -3, phastCons 0.001 |
| Overall | ||
| CADD | 11.24 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0254%
African / African-American · 19/74,898 alleles
Filtering AF
0.0166%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0137%
Overall
0.00186%
30/1,612,888 alleles · ultra-rare
exomes 22/1,460,736 · genomes 8/152,152 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0254% | 3,942 |
| Middle Eastern | 0.0171% | 5,846 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,227 |
| Admixed American | 0.00167% | 59,998 |
| South Asian | 0.0011% | 91,062 |
| European (non-Finnish) | 0.000508% | 196,668 |
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.Phe800=
- Coding
- c.2400C>T
- MANE Select
- NM_005762
- Type
- single nucleotide variant
- Location
- chr19:58550445 (GRCh38)
- Gene constraint
- LOEUF 0.17 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 67.59 · 10 PDB
- Residue 800
- a UniProt-annotated variant site (risk factor for wt7); a turn
Similar variants
- 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.Arg795Cys 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-phe800 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown