Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene TSC2
Variant S1090C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1090C does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1090C has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1090C

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000548.5
gDNA chr16:g.2079413C>G
cDNA c.3269C>G
Protein p.S1090C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_011522638 chr16:g.2079172C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_000548 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2079172C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318831 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
NM_001318831.1 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2083811A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
XM_017023617 chr16:g.2079380_2079381delCGinsGT c.3269_3270delCGinsGT p.S1090C RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318827 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2082489A>T c.3268A>T p.S1090C RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079413C>G c.3269C>G p.S1090C RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2080276_2080277delCAinsGT c.3269_3270delCAinsGT p.S1090C RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2079380_2079381delCGinsGT c.3269_3270delCGinsGT p.S1090C 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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