TGFB2 p.Ser94fs
c.279del · VCV4940403
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TGFB2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 7 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.65 | GERP -4.1, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TGFB2
- Protein
- p.Ser94fs
- Coding
- c.279del
- MANE Select
- NM_003238
- Type
- Deletion
- Location
- chr1:218346979 (GRCh38)
- Gene constraint
- LOEUF 0.463 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 80.41 · 11 PDB
Disease context
TGFB2-related disorder
Similar variants
- TGFB2 p.Leu218fs Likely pathogenic ★ same condition
- TGFB2 p.Leu246fs Likely pathogenic ★ same condition
- TGFB2 p.Arg299Trp Pathogenic/Likely pathogenic ★★ same condition
- TGFB2 p.Arg302His Pathogenic/Likely pathogenic ★★ same condition
- TGFB2 p.Arg320Cys Pathogenic/Likely pathogenic ★★ same condition
- TGFB2 p.Gln155Ter Likely pathogenic ★★ same condition
- TGFB2 p.Lys146fs Pathogenic ★★ same condition
- TGFB2 p.Tyr98Ter 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/tgfb2-p-ser94fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown