chr7:116771849:> Detail (hg38) (MET)

Information

Genome

Assembly Position
hg19 chr7:116,411,903-116,412,043 
hg38 chr7:116,771,849-116,771,989

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Crizotinib C Predictive Supports Sensitivity/Response Somatic 3 26729443 Detail
lung adenocarcinoma Capmatinib C Predictive Supports Sensitivity/Response Somatic 3 25971938 Detail
lung adenocarcinoma Crizotinib C Predictive Supports Sensitivity/Response Somatic 2 26845194 Detail
lung adenocarcinoma Crizotinib C Predictive Supports Sensitivity/Response Somatic 1 25769807 Detail
lung non-small cell carcinoma Tepotinib B Predictive Supports Sensitivity/Response Somatic 3 Detail
cancer Crizotinib D Predictive Supports Sensitivity/Response Somatic 3 26547802 Detail
lung non-small cell carcinoma Crizotinib B Predictive Supports Sensitivity/Response Somatic 1 Detail
lung non-small cell carcinoma Crizotinib C Predictive Supports Sensitivity/Response Somatic 2 26892698 Detail
histiocytic and dendritic cell cancer Crizotinib C Predictive Supports Sensitivity/Response Somatic 3 25971938 Detail
cancer Capmatinib D Predictive Supports Sensitivity/Response Somatic 3 25971938 Detail
lung adenocarcinoma Crizotinib C Predictive Supports Sensitivity/Response Somatic 3 25971939 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A single patient with a MET c.3028G>A (splice donor site of exon 14) mutation exhibited clinical sen... CIViC Evidence Detail
A patient with MET c.3028+1G>T mutation (METex14) had partial response (tumor reduction of 61%) afte... CIViC Evidence Detail
Case report of a patient with lung adenocarcinoma harboring a MET exon 14 skipping mutation and majo... CIViC Evidence Detail
In a never-smoking metastatic lung adenocarcinoma patient harboring a MET splice site mutation (c.28... CIViC Evidence Detail
In a interim analysis of Phase II trial for MET exon 14 skipping NSCLC, 34 patients received MEK sel... CIViC Evidence Detail
The creation of a cell line model (HEK293) with MET exon 14 deletion (using the CRISPR/Cas9 system) ... CIViC Evidence Detail
Pts with MET exon 14-altered NSCLC were enrolled into an expansion cohort of the phase I PROFILE 100... CIViC Evidence Detail
In this case Report, a 67-year old female patient with a lung adenocarcinoma displaying a MET exon 1... CIViC Evidence Detail
An 84 year old never-smoker with an upper chest mass was found to have stage 3 histiocytic sarcoma. ... CIViC Evidence Detail
MET exon 14 skipping was modelled in vitro by expressing human MET cDNA with exon 14 deletion in HEK... CIViC Evidence Detail
We now report responses to the MET inhibitors crizotinib and cabozantinib in four patients with stag... CIViC Evidence 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
-
Genome
hg38
Position
chr7:116,771,849-116,771,989
Variant Type
snv
Variant (CIViC) (CIViC Variant)
EXON 14 SKIPPING MUTATION
Transcript 1 (CIViC Variant)
ENST00000318493.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/324
Summary (CIViC Variant)
Exon 14 mutations have been observed in ~3% of patients with NSCLC (28/933 reported by Awad et al J Clin Onc 2016), confirmed to cause exon skipping when available, and associated with concurrent MET amplification. Responses to the c-MET inhibitor crizotinib have been reported in preclinical models and in individual case reports as well as a small-scale clinical trial (17 patients treated, Drilon et al., 2016 (suppl; abstr 108; ASCO ID 167889-176)). Larger studies are needed but enrollment of patients with MET exon 14 skipping mutation in trials with MET inhibitors or off-label treatment is encouraged (Paik et al., 2015 (suppl; abstr 8021)).
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