chr7:116783353:G>A Detail (hg38) (MET)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:116,423,407-116,423,407 View the variant detail on this assembly version.
hg38	chr7:116,783,353-116,783,353

HGVS

MET

Type	Transcript	Protein
RefSeq	NM_001127500.2:c.3736G>A	NP_001120972.1:p.Asp1246Asn
	NM_000245.3:c.3682G>A	NP_000236.2:p.Asp1228Asn
	NM_001324402.1:c.3682G>A	NP_001311331.1:p.Asp1228Asn
Ensemble	ENST00000318493.11:c.3736G>A	ENST00000318493.11:p.Asp1246Asn
	ENST00000397752.8:c.3682G>A	ENST00000397752.8:p.Asp1228Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

MET

Type	Database	ID	Link
Gene	MIM	164860	OMIM
	HGNC	7029	HGNC
	Ensembl	ENSG00000105976	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5015794	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-05-01	no assertion criteria provided	Papillary renal cell carcinoma type 1	germline	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	carcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Crizotinib	C	Predictive	Supports	Resistance	Somatic	2	27343442	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.253	renal cell carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Case report of a patient with NSCLC harboring a MET exon 14 skipping mutation and initial response t...	CIViC Evidence	Detail
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) AND Papillary renal cell carcinoma type 1	ClinVar	Detail
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) AND Carcinoma	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121913671 dbSNP
Genome: hg38
Position: chr7:116,783,353-116,783,353
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): D1228N
Transcript 1 (CIViC Variant): ENST00000397752.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/649

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