TEK p.Gly623=
c.1869G>A · rs55979986 · VCV366432
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.94%, eas)
Conditions
1
multiple cutaneous and mucosal venous malformations
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP -0.61, phastCons 1 |
| Overall | ||
| CADD | 7.606 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.94%
East Asian · 1,319/44,844 alleles
Filtering AF
2.81%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.76%
Overall
0.0951%
1,535/1,614,036 alleles · low-frequency
exomes 1,421/1,461,788 · genomes 114/152,248 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 2.94% | 34 |
| Remaining individualsnot grpmax-eligible | 0.106% | 947 |
| South Asian | 0.0791% | 1,265 |
| Admixed American | 0.0617% | 1,621 |
| African / African-American | 0.012% | 8,337 |
| European (non-Finnish) | 0.00271% | 36,875 |
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.Gly623=
- Coding
- c.1869G>A
- MANE Select
- NM_000459
- dbSNP
- rs55979986
- Type
- single nucleotide variant
- Location
- chr9:27197559 (GRCh38)
- Gene constraint
- LOEUF 0.368 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.37 · 17 PDB
- Residue 623
- the fibronectin type-iii 2 domain; an α-helix
Similar variants
- TEK p.Arg1099Ter Pathogenic ★★ same condition
- TEK p.Arg849Trp Pathogenic ★★ ⚠ same condition
- TEK p.Arg915Cys Pathogenic/Likely pathogenic ★★ same condition
- TEK p.Arg915His Pathogenic/Likely pathogenic ★★ same condition
- TEK p.Arg918Cys Pathogenic/Likely pathogenic ★★ same condition
- TEK p.Gln518Ter Pathogenic/Likely pathogenic ★★ same condition
- TEK p.Tyr897Asn Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TEK p.Tyr897Cys 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/tek-p-gly623 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown