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NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) AND Acute myeloid leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2016
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:
RCV000424226.1

Allele description [Variation Report for NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)]

NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)

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.2228G>C (p.Gly743Ala)
HGVS:
  • NC_000009.12:g.27204929G>C
  • NG_011828.1:g.100781G>C
  • NG_011828.2:g.100790G>C
  • NM_000459.5:c.2228G>CMANE SELECT
  • NM_001290077.2:c.2099G>C
  • NM_001290078.2:c.1787G>C
  • NM_001375475.1:c.2228G>C
  • NM_001375476.1:c.2099G>C
  • NP_000450.3:p.Gly743Ala
  • NP_001277006.1:p.Gly700Ala
  • NP_001277006.2:p.Gly700Ala
  • NP_001277007.1:p.Gly596Ala
  • NP_001277007.2:p.Gly596Ala
  • NP_001362404.1:p.Gly743Ala
  • NP_001362405.1:p.Gly700Ala
  • NC_000009.11:g.27204927G>C
  • NM_001290077.1:c.2099G>C
  • NM_001290078.1:c.1787G>C
Protein change:
G596A
Links:
dbSNP: rs202131936
NCBI 1000 Genomes Browser:
rs202131936
Molecular consequence:
  • NM_000459.5:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290077.2:c.2099G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290078.2:c.1787G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375475.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375476.1:c.2099G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000510516Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional characterization of an activating TEK mutation in acute myeloid leukemia: a cellular context-dependent activating mutation.

Tyner JW, Rutenberg-Schoenberg ML, Erickson H, Willis SG, O'Hare T, Deininger MW, Druker BJ, Loriaux MM.

Leukemia. 2009 Jul;23(7):1345-8. doi: 10.1038/leu.2009.66. Epub 2009 Apr 2. No abstract available.

PubMed [citation]
PMID:
19340004

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510516.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024