TCF20 p.Arg1255fs
c.3762dup · VCV4948239
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
TCF20-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 haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TCF20
- Protein
- p.Arg1255fs
- Coding
- c.3762dup
- MANE Select
- NM_001378418
- Type
- Duplication
- Location
- chr22:42211543 (GRCh38)
- Gene constraint
- LOEUF 0.05 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 39.03
- Residue 1255
- the 'disordered' region; a UniProt-annotated variant site (in ddviba)
Disease context
TCF20-related disorder
Similar variants
- TCF20 p.Gln1185fs Pathogenic ★ same condition
- TCF20 p.Gln236fs Likely pathogenic ★ same condition
- TCF20 p.Ser663fs Likely pathogenic ★ same condition
- TCF20 p.Thr1671fs Pathogenic ★ same condition
- TCF20 p.Met37Lys Uncertain significance ★★ ⚠ same condition
- TCF20 p.Thr469Ile Uncertain significance ★★ ⚠ same condition
- TCF20 p.Cys1641Ter Likely pathogenic ★ same condition
- TCF20 p.Gln1357Ter 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/tcf20-p-arg1255fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown