TEK p.Glu151del
c.447AGA[2] · rs1823828544 · VCV2631025
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Conditions
1
TEK-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,602 alleles
Overall
6.2e-05%
1/1,613,598 alleles · very rare
exomes 1/1,461,224 · genomes 0/152,374 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TEK
- Protein
- p.Glu151del
- Coding
- c.447AGA[2]
- MANE Select
- NM_000459
- dbSNP
- rs1823828544
- Type
- Microsatellite
- Location
- chr9:27168576 (GRCh38)
- Gene constraint
- LOEUF 0.368 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.37 · 17 PDB
- Residue 151
- a UniProt-annotated variant site (in glc3e; formation of protein aggregates)
Disease context
TEK-related disorder
Similar variants
- TEK c.761-14_761-10del Likely benign same condition
- TEK p.Arg849Trp Pathogenic ★★ ⚠ same condition
- TEK p.Glu1109Ter Pathogenic/Likely pathogenic ★★ same condition
- TEK p.Arg107Ter Likely pathogenic ★ same condition
- TEK p.Cys1040Arg Likely pathogenic ★ ⚠ same condition
- TEK p.Glu893Val Likely pathogenic ★ ⚠ same condition
- TEK p.Thr1037Lys Likely pathogenic ★ ⚠ same condition
- TEK p.Pro447Leu Uncertain significance ★ ⚠ 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/tek-p-glu151del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown