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Gene TSC2
Variant R1329P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R1329P does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1329P has been identified in sequencing studies (J Thorac Oncol. Vol 13, Issue 10, S512-S513), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R1329P

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Transcript NM_000548.5
gDNA chr16:g.2083797G>C
cDNA c.3986G>C
Protein p.R1329P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522640.2 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2083797G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
XM_011522640 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2083797G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
NM_000548 chr16:g.2083797G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2085246G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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 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