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 TSC1
Variant A944V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 A944V lies within the coiled-coil domain of the Tsc1 protein (UniProt.org). A944V has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 A944V

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_000368.5
gDNA chr9:g.132897328G>A
cDNA c.2831C>T
Protein p.A944V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011518979.2 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_005272211 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_000368 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132897310G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_017015096 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_017015097 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_011518979 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132897310G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_006717271 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132897328G>A c.2831C>T p.A944V RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132897328G>A c.2831C>T p.A944V 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
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
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 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 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 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 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 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