Table 10.

Notable TEK Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000459​.5
NP_000450​.3 		c.2545C>Tp.Arg849TrpCommon variant detected in 6 families w/VMCM [Vikkula et al 1996, Wouters et al 2010, Boon et al 2011b]; also proposed to require a 2nd pathogenic variant to cause VM [Limaye et al 2009]
c.2740C>Tp.Leu914PheMost common variant in unifocal VM (mosaic)
c.2690A>Gp.Tyr897CysMost common first mosaic "hit" or variant in MSVM
c.3314C>Ap.Thr1105AsnMost common somatic doublet variants (or "double hits") in BRBN syndrome [Soblet et al 2017] 1
c.3316A>Cp.Thr1106Pro

BRBN = blue rubber bleb nevus; MSVM = multifocal sporadic venous malformations; VM = venous malformation; VMCM = multiple cutaneous and mucosal venous malformations

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

The allele NM_000459​.4:c.[3314C>A;3316A>C], NP_000450​.2:p.[(Thr1105Asn;Thr1106Pro)] is recurrent (57% of individuals with molecularly confirmed BRBN syndrome); the published nomenclature of the allele is T1105N-T1106P [Soblet et al 2017]. The remainder are largely double (cis) pathogenic variants containing NM_000459​.4:c.2690A>G (pTyr897Cys) with different combinations [Soblet et al 2013, Soblet et al 2017].

From: TEK-Related Venous Malformations

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