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Gene TSC2
Variant L204V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L204V lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). L204V has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L204V

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Transcript NM_000548.5
gDNA chr16:g.2056206C>G
cDNA c.610C>G
Protein p.L204V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001370405.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001077183 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522637 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522636 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_000548 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001114382 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522639 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_005255529 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_005255531 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522640 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_017023615 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_017023616 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2056206C>G c.610C>G p.L204V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
TSC2 mutant osteosarcoma no benefit Irinotecan + Temozolomide + Temsirolimus Case Reports/Case Series Actionable In a clinical case study, Torisel (temsirolimus), Temodar (temozolomide), and Camptosar (irinotecan) combination treatment resulted in progressive disease in a pediatric patient with osteosarcoma harboring a TSC2 mutation (PMID: 37523146; NCT03336931). 37523146
TSC2 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
TSC2 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
TSC2 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
TSC2 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
TSC2 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
TSC2 mutant osteosarcoma no benefit Temsirolimus Preclinical - Pdx Actionable In a preclinical study, Torisel (temsirolimus) treatment did not improve event-free survival in an osteosarcoma patient-derived xenograft (PDX) model harboring a TSC2 mutation (PMID: 37523146). 37523146
TSC2 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