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NM_000459.5(TEK):c.2744G>A (p.Arg915His) AND Multiple cutaneous and mucosal venous malformations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000022956.6

Allele description [Variation Report for NM_000459.5(TEK):c.2744G>A (p.Arg915His)]

NM_000459.5(TEK):c.2744G>A (p.Arg915His)

Gene:
TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.2
Genomic location:
Preferred name:
NM_000459.5(TEK):c.2744G>A (p.Arg915His)
HGVS:
  • NC_000009.12:g.27212764G>A
  • NG_011828.1:g.108616G>A
  • NG_011828.2:g.108625G>A
  • NM_000459.5:c.2744G>AMANE SELECT
  • NM_001290077.2:c.2615G>A
  • NM_001290078.2:c.2300G>A
  • NM_001375475.1:c.2741G>A
  • NM_001375476.1:c.2612G>A
  • NP_000450.3:p.Arg915His
  • NP_001277006.1:p.Arg872His
  • NP_001277006.2:p.Arg872His
  • NP_001277007.1:p.Arg767His
  • NP_001277007.2:p.Arg767His
  • NP_001362404.1:p.Arg914His
  • NP_001362405.1:p.Arg871His
  • NC_000009.11:g.27212762G>A
  • NM_000459.3:c.2744G>A
  • NM_001290077.1:c.2615G>A
  • NM_001290078.1:c.2300G>A
  • Q02763:p.Arg915His
Protein change:
R767H; ARG915HIS
Links:
UniProtKB: Q02763#VAR_066607; OMIM: 600221.0004; dbSNP: rs387906745
NCBI 1000 Genomes Browser:
rs387906745
Molecular consequence:
  • NM_000459.5:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290077.2:c.2615G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290078.2:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375475.1:c.2741G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375476.1:c.2612G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple cutaneous and mucosal venous malformations (VMCM)
Identifiers:
MONDO: MONDO:0010842; MedGen: C1838437; Orphanet: 2451; OMIM: 600195

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044247OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2010) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M.

Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4.

PubMed [citation]
PMID:
19888299
PMCID:
PMC2841708

Details of each submission

From OMIM, SCV000044247.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and 2 daughters with 1 to 4 cutaneomucosal venous malformations (VMCM; 600195), Wouters et al. (2010) identified heterozygosity for a 2744G-A transition in exon 17 of the TEK gene, resulting in an arg915-to-his (R915H) substitution in the intracellular first tyrosine kinase domain. Studies in COS-7 cells demonstrated that the R915H mutation induced a 29-fold increase in ligand-independent receptor phosphorylation compared to wildtype. In addition to VMCMs, all 3 patients had a restrictive perimembranous ventricular septal defect.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024