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Gene TSC2
Variant R57H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R57H lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). R57H results in reduced expression of Tsc1 and Tsc2, however, also demonstrates increased S6k phosphorylation compared to wild-type Tsc2 in cultured cells (PMID: 21309039), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R57H

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Transcript NM_000548.5
gDNA chr16:g.2050431G>A
cDNA c.170G>A
Protein p.R57H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024450413.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522638 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
XM_011522639 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522640 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318832 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318827 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023618 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001077183 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255529 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_000548 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522637 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_005255531 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023617 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2047991_2047992delGGinsAT c.170_171delGGinsAT p.R57H RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_017023615 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2048751_2048753delAGAinsCAT c.169_171delAGAinsCAT p.R57H RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001114382 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
XM_011522636 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2064342_2064343delGAinsAT c.170_171delGAinsAT p.R57H RefSeq GRCh38/hg38
XM_017023616 chr16:g.2050431G>A c.170G>A p.R57H RefSeq GRCh38/hg38

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  • 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")

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  • 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 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 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 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 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 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 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