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MET N375K
GeneMET
Variantmissense
Amino Acid ChangeN375K
Transcript ID (GRCh37/hg19)ENST00000318493
Codon375
Exon2
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 3
MET
Variants
MET N375K
Primary Sites
Soft Tissue
Tumor Types
Chondrosarcoma
Interpretation

MET is a member of the receptor tyrosine kinase and proto-oncogene playing a major role in tumor development and metastasis. Nonsynonymous mutations in the MET gene have been rarely described in sarcomas (<2%). The N375K variant has been reported as a somatic variant in two cases of NSCLC. It has been also reported in a single family with familial EGFR-mutant lung adenocarcinoma. This variant lies in the non-kinase domain of the protein. Further functional studies showed this mutation reduced the binding affinity of MET for its ligand, hepatocyte growth factor (HGF), damaging subsequent cellular processes including proliferation, motility and tumorigenicity. In ClinVar it is reported as a germline variant of unknown significance (https://preview.ncbi.nlm.nih.gov/clinvar/variation/572621/). The activity of MET inhibitors in tumors with non-kinase domain MET mutations is not yet known. The clinical significance of this mutation in this tumor is uncertain. Clinical correlation is recommended.

Last updated: 2019-04-03 14:35:22 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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