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Gene TSC1
Variant F216A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 F216A does not lie within any known functional domains of the Tsc1 protein (UniProt.org). F216A results in altered subcellular localization but interaction with Tsc2 similar to wild-type Tsc1 and attenuates mTor signaling in cultured cells (PMID: 18397877), and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 F216A

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Transcript NM_000368.5
gDNA chr9:g.132921835_132921836delTTinsGC
cDNA c.646_647delTTinsGC
Protein p.F216A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406597.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921835_132921836delTTinsGC c.646_647delTTinsGC p.F216A RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC1 mutant bladder carcinoma sensitive Everolimus Phase II Actionable A retrospective study of a Phase II trial correlated increased sensitivity to the mTOR inhibitor Afinitor (everolimus) with TSC1 mutations in bladder cancer patients (PMID: 22923433). 22923433
TSC1 mutant renal cell carcinoma conflicting Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, TSC1, TSC2, or MTOR mutation status was not associated with progression-free survival in renal cell carcinoma patients treated with Afinitor (everolimus) (PMID: 30327302). 30327302
TSC1 mutant renal cell carcinoma conflicting Everolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987
TSC1 mutant hepatocellular carcinoma decreased response Sorafenib Clinical Study - Cohort Actionable In a clinical case study, Nexavar (sorafenib) treatment of patients with hepatocellular carcinoma harboring Mtor pathway mutations in PIK3CA, PTEN, TSC2, or TSC1 (n=12), resulted in a lower disease control rate (8.3% vs. 40.2%), shorter progression-free survival (1.9 months vs. 5.3 months) and shorter overall survival (10.4 months vs. 17.9 months) compared to patients without mutations in this pathway (n=67) (PMID: 30373752; NCT01775072). 30373752
TSC1 mutant subependymal giant cell astrocytoma predicted - sensitive Everolimus Phase III Actionable In a Phase III trial (EXIST-1), Afinitor (everolimus) treatment resulted in a 50% or more tumor reduction in 35% (27/78) of adult and pediatric patients diagnosed with tuberous sclerosis complex and had subependymal giant cell astrocytoma, compared to 0% (0/39) in the placebo group, 85% (99/117) of the patients harbored mutations in TSC1 and/or TSC2 (PMID: 23158522; NCT00789828). 23158522
TSC1 mutant lung non-small cell carcinoma no benefit Vistusertib Case Reports/Case Series Actionable In a Phase II trial (NLMT), Vistusertib (AZD2014) treatment did not result in a confirmed response (0/5) or durable clinical benefit (0/5) in patients with non-small cell lung cancer harboring TSC1 or TSC2 mutations, thus the cohort was closed due to futility (PMID: 32669708, NCT02664935). 32669708
TSC1 mutant renal cell carcinoma predicted - sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987