TGFB3 p.Arg52=
c.156G>A · rs2035417307 · VCV3223150
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
familial thoracic aortic aneurysm and aortic dissection
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 0.62 | GERP -1, phastCons 1 |
| Overall | ||
| CADD | 10.55 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TGFB3
- Protein
- p.Arg52=
- Coding
- c.156G>A
- MANE Select
- NM_003239
- dbSNP
- rs2035417307
- Type
- single nucleotide variant
- Location
- chr14:75980738 (GRCh38)
- Gene constraint
- LOEUF 0.249 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.48 · 11 PDB
Disease context
familial thoracic aortic aneurysm and aortic dissection — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial thoracic aortic aneurysm and aortic dissection (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood
Similar variants
- TGFB3 p.Arg52Trp Uncertain significance ★★ ⚠ same residue
- TGFB3 p.Arg52Lys Uncertain significance ★ ⚠ same residue
- TGFB3 p.Arg52Thr Uncertain significance ★ ⚠ same residue
- TGFB3 c.646+1G>C Likely pathogenic ★★ same condition
- TGFB3 c.926+1G>A Likely pathogenic ★★ same condition
- TGFB3 p.Arg148Ter Pathogenic/Likely pathogenic ★★ same condition
- TGFB3 p.Arg300Trp Pathogenic/Likely pathogenic ★★ same condition
- TGFB3 p.Arg325Ter Pathogenic/Likely pathogenic ★★ same condition
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/tgfb3-p-arg52 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown