ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Filter
7-116339150-C-T	ENST00000397752	p.Pro4Pro	Synonymous Variant	0	0	0	rs772251895
7-116339151-G-A	ENST00000397752	p.Ala5Thr	Missense Variant	0	0	0	rs765444467
7-116339151-G-T	ENST00000397752	p.Ala5Ser	Missense Variant	0	0	0	rs765444467
7-116339154-G-T	ENST00000397752	p.Val6Leu	Missense Variant	0	0	0	rs1395233386
7-116339155-T-G	ENST00000397752	p.Val6Gly	Missense Variant	0	0	0	rs950885374
7-116339160-G-A	ENST00000397752	p.Ala8Thr	Missense Variant	1	31404	0.000032	rs758564871	RF
7-116339164-C-T	ENST00000397752	p.Pro9Leu	Missense Variant	0	0	0	rs1355886011
7-116339172-C-T	ENST00000397752	p.Leu12Phe	Missense Variant	0	0	0	rs764455004
7-116339174-C-A	ENST00000397752	p.Leu12Leu	Synonymous Variant	0	0	0	rs188625702
7-116339175-G-A	ENST00000397752	p.Val13Met	Missense Variant	2	31388	0.000064	rs781777052
7-116339176-T-C	ENST00000397752	p.Val13Ala	Missense Variant	0	0	0	rs748776466
7-116339178-C-T	ENST00000397752	p.Leu14Phe	Missense Variant	1	31402	0.000032	rs763344951
7-116339183-G-A	ENST00000397752	p.Leu15Leu	Synonymous Variant	0	0	0	rs778415960
7-116339188-C-T	ENST00000397752	p.Thr17Ile	Missense Variant	0	0	0	rs747777018
7-116339190-T-G	ENST00000397752	p.Leu18Val	Missense Variant	0	0	0	rs1260001540
7-116339193-G-C	ENST00000397752	p.Val19Leu	Missense Variant	0	0	0	rs1486187704
7-116339200-G-A	ENST00000397752	p.Arg21Lys	Missense Variant	0	0	0	rs964356368
7-116339203-G-T	ENST00000397752	p.Ser22Ile	Missense Variant	0	0	0	rs587780739
7-116339204-C-A	ENST00000397752	p.Ser22Arg	Missense Variant	0	0	0	rs773018125
7-116339209-G-A	ENST00000397752	p.Gly24Glu	Missense Variant	17	31396	0.000541	rs180985111

Showing 1 to 20 of 981 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
MET	P08581	Phosphorylation	1000	S1000-p	tEMVsNEsVDyRAtF	155.54	465843
MET	P08581	Phosphorylation	1003	Y1003-p	VsNEsVDyRAtFPED	155.54	448469
MET	P08581	Phosphorylation	1006	T1006-p	EsVDyRAtFPEDQFP	155.54	15421363
MET	P08581	Phosphorylation	1016	S1016-p	EDQFPNSsQNGsCRQ	155.54	4954979
MET	P08581	Phosphorylation	1020	S1020-p	PNSsQNGsCRQVQyP	155.54	4956074
MET	P08581	Phosphorylation	1026	Y1026-p	GsCRQVQyPLTDMSP	155.54	15229711
MET	P08581	Phosphorylation	1093	Y1093-p	RGHFGCVyHGtLLDN	155.54	477074
MET	P08581	Phosphorylation	1096	T1096-p	FGCVyHGtLLDNDGk	155.54	23125389
MET	P08581	Ubiquitination	1103	K1103-ub	tLLDNDGkkIHCAVk	155.54	964526692
MET	P08581	Ubiquitination	1104	K1104-ub	LLDNDGkkIHCAVkS	155.54	12104611
MET	P08581	Ubiquitination	1110	K1110-ub	kkIHCAVkSLNRITD	155.54	964526694
MET	P08581	Phosphorylation	1159	Y1159-p	SPLVVLPyMkHGDLR	155.54	15229714
MET	P08581	Ubiquitination	1161	K1161-ub	LVVLPyMkHGDLRNF	155.54	21178812
MET	P08581	Ubiquitination	1179	K1179-ub	ETHNPTVkDLIGFGL	155.54	964526696
MET	P08581	Ubiquitination	1190	K1190-ub	GFGLQVAkGMkyLAS	155.54	4954223
MET	P08581	Acetylation	1190	K1190-ac	GFGLQVAkGMkyLAS	155.54	3648350
MET	P08581	Ubiquitination	1193	K1193-ub	LQVAkGMkyLASKkF	155.54	11947542
MET	P08581	Phosphorylation	1194	Y1194-p	QVAkGMkyLASKkFV	155.54	473312
MET	P08581	Ubiquitination	1199	K1199-ub	MkyLASKkFVHRDLA	155.54	964526698
MET	P08581	Ubiquitination	1215	K1215-ub	RNCMLDEkFTVkVAD	155.54	964526700

Showing 1 to 20 of 73 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43245734	c.144G>A	p.A48=	Substitution - coding silent	NEUTRAL	.07023	Reported in another cancer sample as somatic	PMID: 28713588	NS	48
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43244186	c.3523-75T>C	p.?	Unknown	NEUTRAL	.01669	Variant of unknown origin	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43255844	c.3341-241A>G	p.?	Unknown	NEUTRAL	.07283	Variant of unknown origin	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43249527	c.1701+75T>G	p.?	Unknown	NEUTRAL	.04312	Reported in another cancer sample as somatic	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43244176	c.1200+244A>C	p.?	Unknown	NEUTRAL	.24026	Variant of unknown origin	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43245180	c.2265-314G>A	p.?	Unknown	NEUTRAL	.00191	Variant of unknown origin	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	MG-100-tumor	meninges	meningioma	43245189	c.2584-7del	p.?	Unknown			Variant of unknown origin	PMID: 28713588	NS	0
MET_ENST00000397752	ENST00000397752	5-GE105-T2	skin	carcinoma	43249505	c.1702-7C>T	p.?	Unknown	NEUTRAL	.24165	Variant of unknown origin	PMID: 26950094	NS	0
MET_ENST00000397752	ENST00000397752	8057490	pancreas	carcinoma	43254447	c.2265-180T>A	p.?	Unknown	NEUTRAL	.07957	Confirmed somatic variant	PMID: N/A	NS	0
MET_ENST00000397752	ENST00000397752	TCGA-G2-AA3B-01	urinary_tract	carcinoma	43250486	c.1151G>C	p.R384T	Substitution - Missense	PATHOGENIC	.82855	Confirmed somatic variant	PMID: N/A	primary	384
MET_ENST00000397752	ENST00000397752	W10T	thyroid	carcinoma	43253054	c.1347C>A	p.D449E	Substitution - Missense		.67292	Confirmed somatic variant	PMID: N/A	primary	449
MET_ENST00000397752	ENST00000397752	2861877	lung	carcinoma	43256024	c.2998T>A	p.S1000T	Substitution - Missense	PATHOGENIC	.97599	Confirmed somatic variant	PMID: 26215952	NS	1000
MET_ENST00000397752	ENST00000397752	18610	lung	carcinoma	43244613	c.2975C>T	p.T992I	Substitution - Missense	PATHOGENIC	.98143	Reported in another cancer sample as somatic	PMID: 26124082	NS	992
MET_ENST00000397752	ENST00000397752	P-0004272-T01-IM5	NS	malignant_melanoma	43245645	c.3446G>T	p.S1149I	Substitution - Missense	PATHOGENIC	.89187	Confirmed somatic variant	PMID: 28481359	metastasis	1149
MET_ENST00000397752	ENST00000397752	2841325	prostate	carcinoma	43253385	c.2543T>C	p.V848A	Substitution - Missense	PATHOGENIC	.92687	Variant of unknown origin	PMID: 31874108	primary	848
MET_ENST00000397752	ENST00000397752	2841095	prostate	carcinoma	43244589	c.-14-3314A>T	p.?	Unknown	NEUTRAL	.03426	Reported in another cancer sample as somatic	PMID: 31874108	primary	0
MET_ENST00000397752	ENST00000397752	2841095	prostate	carcinoma	43253629	c.2730+4G>A	p.?	Unknown		.6916	Variant of unknown origin	PMID: 31874108	primary	0
MET_ENST00000397752	ENST00000397752	TCGA-97-8176-01	lung	carcinoma	43249886	c.622G>T	p.D208Y	Substitution - Missense	NEUTRAL	.20947	Confirmed somatic variant	PMID: N/A	primary	208
MET_ENST00000397752	ENST00000397752	PCSI_0082_Pa_P_526	pancreas	carcinoma	43247596	c.1483A>T	p.T495S	Substitution - Missense	NEUTRAL	.02115	Confirmed somatic variant	PMID: N/A	NS	495
MET_ENST00000397752	ENST00000397752	2841298	prostate	carcinoma	43244039	c.2730+105T>C	p.?	Unknown		.52564	Variant of unknown origin	PMID: 31874108	primary	0

Showing 1 to 20 of 1,426 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF01403	Sema	Sema domain	54-493			Homo sapiens
PF01437	PSI	Plexin repeat	519-562	CL0630	PSI	Homo sapiens
PF01833	TIG	IPT/TIG domain	563-654	CL0159	E-set	Homo sapiens
PF01833	TIG	IPT/TIG domain	657-738	CL0159	E-set	Homo sapiens
PF01833	TIG	IPT/TIG domain	742-833	CL0159	E-set	Homo sapiens
PF07714	PK_Tyr_Ser-Thr	Protein tyrosine and serine/threonine kinase	1078-1337	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.405	0.793
Astrocytoma	Neoplasms ;	0.405	0.793
Autistic Disorder	Mental Disorders ;	0.405	0.793
Malignant Neoplasms	Neoplasms ;	0.405	0.793
Carcinoma	Neoplasms ;	0.405	0.793
Non-Small Cell Lung Carcinoma	Neoplasms ; Respiratory Tract Diseases ;	0.405	0.793
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Squamous cell carcinoma	Neoplasms ;	0.405	0.793
Cognition Disorders	Mental Disorders ;	0.405	0.793
Esophageal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Glioblastoma	Neoplasms ;	0.405	0.793
Hepatitis, Chronic	Digestive System Diseases ;	0.405	0.793
Hepatoma, Morris	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Hepatoma, Novikoff	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Leukemia, Myelocytic, Acute	Neoplasms ;	0.405	0.793
Liver Neoplasms, Experimental	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.405	0.793
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Acute Myeloid Leukemia, M1	Neoplasms ;	0.405	0.793
Neoplasm Invasiveness	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.405	0.793
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.405	0.793
Neuroblastoma	Neoplasms ;	0.405	0.793
Osteosarcoma	Neoplasms ;	0.405	0.793
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.405	0.793
Schizophrenia	Mental Disorders ;	0.405	0.793
Sinusitis	Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ;	0.405	0.793
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Experimental Hepatoma	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Chronic Persistent Hepatitis	Digestive System Diseases ;	0.405	0.793
Benign neoplasm of stomach	N/A	0.405	0.793
Benign neoplasm of adrenal gland	N/A	0.405	0.793
Benign neoplasm of aortic body and other paraganglia	N/A	0.405	0.793
Carcinoma in situ of stomach	N/A	0.405	0.793
Adenocarcinoma, Basal Cell	Neoplasms ;	0.405	0.793
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.405	0.793
Carcinoma, Cribriform	Neoplasms ;	0.405	0.793
Carcinoma, Granular Cell	Neoplasms ;	0.405	0.793
Adenocarcinoma, Tubular	Neoplasms ;	0.405	0.793
Anaplastic carcinoma	Neoplasms ;	0.405	0.793
Carcinoma, Spindle-Cell	Neoplasms ;	0.405	0.793
Undifferentiated carcinoma	Neoplasms ;	0.405	0.793
Carcinomatosis	Neoplasms ;	0.405	0.793
Subependymal Giant Cell Astrocytoma	Neoplasms ;	0.405	0.793
Hepatoblastoma	Neoplasms ;	0.405	0.793
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.405	0.793
Childhood Hepatocellular Carcinoma	N/A	0.405	0.793
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Juvenile Pilocytic Astrocytoma	Neoplasms ;	0.405	0.793
Diffuse Astrocytoma	Neoplasms ;	0.405	0.793
Anaplastic astrocytoma	Neoplasms ;	0.405	0.793
Protoplasmic astrocytoma	Neoplasms ;	0.405	0.793
Gemistocytic astrocytoma	Neoplasms ;	0.405	0.793
Fibrillary Astrocytoma	Neoplasms ;	0.405	0.793
Pilocytic Astrocytoma	Neoplasms ;	0.405	0.793
Giant Cell Glioblastoma	Neoplasms ;	0.405	0.793
Childhood Cerebral Astrocytoma	Neoplasms ;	0.405	0.793
Malignant Adrenal Medulla Neoplasm	N/A	0.405	0.793
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Malignant mesothelioma	Neoplasms ; Respiratory Tract Diseases ;	0.405	0.793
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.405	0.793
Malignant neoplasm of aortic body and other paraganglia	N/A	0.405	0.793
Neoplasm of uncertain or unknown behavior of stomach	N/A	0.405	0.793
Chronic active hepatitis	Digestive System Diseases ;	0.405	0.793
Cryptogenic Chronic Hepatitis	Digestive System Diseases ;	0.405	0.793
Malignant neoplasm of esophagus	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Mixed oligoastrocytoma	Neoplasms ;	0.405	0.793
Stomach Carcinoma	N/A	0.405	0.793
Malignant neoplasm of kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Cerebral Astrocytoma	Neoplasms ;	0.405	0.793
Intracranial Astrocytoma	Neoplasms ;	0.405	0.793
Hereditary Papillary Renal Carcinoma	N/A	0.405	0.793
ovarian neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.405	0.793
Malignant neoplasm of ovary	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.405	0.793
Squamous cell carcinoma of the head and neck	Neoplasms ;	0.405	0.793
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Adenocarcinoma of large intestine	N/A	0.405	0.793
Type 1 Papillary Renal Cell Carcinoma	N/A	0.405	0.793
Glioblastoma Multiforme	Neoplasms ;	0.405	0.793
Grade I Astrocytoma	Neoplasms ;	0.405	0.793
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Osteofibrous Dysplasia	Musculoskeletal Diseases ;	0.405	0.793
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Wounds and Injuries ;	0.405	0.793
Copper-Overload Cirrhosis	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.405	0.793
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.405	0.793
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Hepatoblastoma Caused By Somatic Mutation	Neoplasms ; Digestive System Diseases ;	0.405	0.793
Papillary renal cell carcinoma, familial	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.405	0.793
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.405	0.793
DEAFNESS, AUTOSOMAL RECESSIVE 97	N/A	0.405	0.793
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO	N/A	0.405	0.793
NO RESULT FOUND

Description:	MET proto-oncogene, receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7029]
Synonyms:	HGFR, AUTS9, DFNB97, RCCP2, c-Met
Other ID(s):	HGNC:7029, ENSG00000105976
Protein Accession Numbers:	ENST00000539704, ENST00000436117, ENST00000318493.6, NP_001120972, ENST00000456159, ENST00000422097, NP_001311331, ENST00000318493, NP_000236, ENST00000454623, ENST00000397752, NP_001311330
Statistics:	ClinVar(1302) gnomAD(981) COSMIC(1426) PTM(73)

Classification of Clinicial Significance of ClinVar Data