TGM3 p.Pro345=
c.1035C>G · rs111244888 · VCV710153
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.552%, 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 -1.2 | GERP -2.6 |
| Overall | ||
| CADD | 1.454 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.552%
African / African-American · 412/74,584 alleles
Filtering AF
0.508%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.491%
Overall
0.0311%
495/1,591,464 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.552% | 181 |
| Remaining individualsnot grpmax-eligible | 0.0828% | 1,208 |
| Middle Eastern | 0.0496% | 2,017 |
| Admixed American | 0.035% | 2,856 |
| South Asian | 0.00114% | 87,656 |
| European (non-Finnish) | 0.000685% | 145,980 |
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
- TGM3
- Protein
- p.Pro345=
- Coding
- c.1035C>G
- MANE Select
- NM_003245
- dbSNP
- rs111244888
- Type
- single nucleotide variant
- Location
- chr20:2325900 (GRCh38)
- Gene constraint
- LOEUF 0.895 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.08 · 11 PDB
- Residue 345
- an α-helix
Similar variants
- TGM3 c.1642+5C>T Benign ★★ same type
- TGM3 p.Ala468Val Benign ★★ same type
- TGM3 p.Arg305= Benign ★★ same type
- TGM3 p.Asn527= Benign ★★ same type
- TGM3 p.Gly650Glu Benign ★★ same type
- TGM3 p.Ala150Thr Uncertain significance ★ ⚠ same type
- TGM3 p.Ala208Thr Uncertain significance ★ ⚠ same type
- TGM3 p.Ala2Thr 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/tgm3-p-pro345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown