TECPR2 p.Val1302fs
c.3905_3918del · VCV3338229
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
autism
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TECPR2
- Protein
- p.Val1302fs
- Coding
- c.3905_3918del
- MANE Select
- NM_014844
- Type
- Deletion
- Location
- chr14:102497093 (GRCh38)
- Gene constraint
- LOEUF 0.607 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 68.27
Similar variants
- TECPR2 c.222delG Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Asn1277fs Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Asn944fs Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Asp259fs Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Gln1263fs Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Gly584fs Pathogenic/Likely pathogenic ★★ same type
- TECPR2 p.Leu1139fs Pathogenic ★★ same type
- TECPR2 p.Leu440fs Pathogenic/Likely pathogenic ★★ 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/tecpr2-p-val1302fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown