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MET

Synonyms
AUTS9, DFNB97, HGFR, RCCP2, c-Met
External resources
Summary
This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
35
VUS
11,007
Likely benign
1,980
Benign
0

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on MET gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of head or neck
17.5%
Abnormality of the cardiovascular system
17.5%
Abnormality of the musculoskeletal system
15%
Abnormality of the ear
12.5%
Growth abnormality
10%
Abnormality of the eye
7.5%
Abnormality of the genitourinary system
7.5%
Abnormality of blood and blood-forming tissues
2.5%
Abnormality of limbs
2.5%
Abnormality of the integument
2.5%
Abnormality of the respiratory system
2.5%
Neoplasm
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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