TSC1 FRAMESHIFT TRUNCATION Detail (hg38) (TSC1)

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Information

Genome

Assembly	Position
hg19	chr9:135,766,735-135,820,008 View the variant detail on this assembly version.
hg38	chr9:132,891,348-132,944,621

Summary

Links

Type	Database	ID	Link
Gene	MIM	605284	OMIM
	HGNC	12362	HGNC
	Ensembl	ENSG00000165699	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Sirolimus	D	Predictive	Supports	Sensitivity/Response	Somatic	3	19966866	Detail
invasive bladder transitional cell carcinoma	Everolimus	B	Predictive	Supports	Sensitivity/Response	Somatic	3	22923433	Detail

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
Following rapamycin treatment of mice with KrasG12D-induced lung tumors, mice with Tsc1 deletion (ex...	CIViC Evidence	Detail
A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was sh...	CIViC Evidence	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: TSC1
Genome: hg38
Position: chr9:132,891,348-132,944,621
Variant Type: cnv
Variant (CIViC) (CIViC Variant): FRAMESHIFT TRUNCATION
Transcript 1 (CIViC Variant): ENST00000298552.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/124
Summary (CIViC Variant): In a small cohort study of bladder cancer, patients with TSC1 mutations showed better responses to and increased treatment duration tolerance with the mTOR inhibitor everolimus. Additionally, patient-derived bladder cancer cell lines with TSC1 or TSC2 mutations are much more sensitive to everolimus treatment than TSC1/TSC2 wildtype cells.

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