TRIM63 p.Gly347=
c.1041G>A · rs61749354 · VCV1283076
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 6 submitters
gnomAD v4.1
Common
common (popmax 6.51%, amr) — 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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.63 | GERP -3.1, phastCons 0.15 |
| Overall | ||
| CADD | 6.189 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.51%
Admixed American · 3,457/53,142 alleles
Filtering AF
6.32%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.25%
Overall
0.31%
4,932/1,593,200 alleles · common
exomes 4,059/1,440,916 · genomes 873/152,284 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 6.51% | 15 |
| East Asian | 1.77% | 57 |
| Remaining individualsnot grpmax-eligible | 0.281% | 356 |
| Finnishnot grpmax-eligible | 0.201% | 498 |
| Ashkenazi Jewishnot grpmax-eligible | 0.132% | 760 |
| African / African-American | 0.125% | 800 |
| South Asian | 0.0512% | 1,953 |
| Middle Eastern | 0.0332% | 3,008 |
| European (non-Finnish) | 0.0183% | 5,456 |
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
- TRIM63
- Protein
- p.Gly347=
- Coding
- c.1041G>A
- MANE Select
- NM_032588
- dbSNP
- rs61749354
- Type
- single nucleotide variant
- Location
- chr1:26053903 (GRCh38)
- Gene constraint
- LOEUF 1.329 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.88 · 3 PDB
- Residue 347
- a UniProt-annotated variant site (in cmh31; likely pathogenic; no protein detected in patient cells; loss of function in protein ubiquitination); a UniProt-annotated variant site (sequence variant); the 'disordered' region
Similar variants
- TRIM63 p.Ala244Val Uncertain significance ★★ ⚠ same type
- TRIM63 p.Ala289Val Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg112Gln Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg183His Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg230Trp Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg62Gln Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg62Trp Uncertain significance ★★ ⚠ same type
- TRIM63 p.Arg74His 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/trim63-p-gly347 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown