TECPR2 p.Gln177fs
c.529del · VCV4815753
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hereditary spastic paraplegia 49
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 5 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.4 | GERP 0.34, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TECPR2
- Protein
- p.Gln177fs
- Coding
- c.529del
- MANE Select
- NM_014844
- Type
- Deletion
- Location
- chr14:102414684 (GRCh38)
- Gene constraint
- LOEUF 0.607 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 68.27
Disease context
hereditary spastic paraplegia 49 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy
Similar variants
- TECPR2 p.Gln177Ter Likely pathogenic ★ same residue
- TECPR2 c.222delG Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Asn1277fs Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Asn944fs Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Asp259fs Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Gln1263fs Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Gly584fs Pathogenic/Likely pathogenic ★★ same condition
- TECPR2 p.Leu1139fs 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/tecpr2-p-gln177fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown