Annotation Detail

Information
Associated Genes
TSC2
Associated Variants
TSC2 p.Gln1178Ter (p.Q1178*) ( ENST00000439673.6, ENST00000642365.2, ENST00000642797.1, ENST00000644043.1, ENST00000219476.9, ENST00000645186.2, ENST00000642561.1, ENST00000643088.1, ENST00000401874.7, ENST00000644329.1, ENST00000642206.2, ENST00000644335.1, ENST00000643946.1, ENST00000646388.1, ENST00000350773.9, ENST00000382538.10, ENST00000642936.1, ENST00000568454.6 )
TSC2 p.Gln1178Ter (p.Q1178*) ( ENST00000219476.9, ENST00000350773.9, ENST00000382538.10, ENST00000401874.7, ENST00000439673.6, ENST00000568454.6, ENST00000642206.2, ENST00000642365.2, ENST00000642561.1, ENST00000642797.1, ENST00000642936.1, ENST00000643088.1, ENST00000643946.1, ENST00000644043.1, ENST00000644329.1, ENST00000644335.1, ENST00000645186.2, ENST00000646388.1 )
Associated Disease
thyroid gland carcinoma
Source Database
CIViC Evidence
Description
The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene TSC2 that inactivates the gene, allowing for activation of the mTOR pathway and resulting in sensitivity to mTOR inhibition by everolimus. The patient received a sustained response to everolimus for 18 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1108
Gene URL
https://civic.genome.wustl.edu/links/genes/47
Variant URL
https://civic.genome.wustl.edu/links/variants/469
Rating
5
Evidence Type
Predictive
Disease
Thyroid Gland Carcinoma
Evidence Direction
Supports
Drug
Everolimus
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25295501
Drugs
Drug NameSensitivitySupported
EverolimusSensitivitytrue