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Gene CTNNB1
Variant S45fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CTNNB1 S45fs results in a change in the amino acid sequence of the Ctnnb1 protein beginning at aa 45 of 781, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S45fs is predicted to lead to a loss of Ctnnb1 protein function.
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 inact mut CTNNB1 S45fs

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Transcript NM_001098210.2
gDNA chr3:g.(41224644_41224645)
cDNA c.(133_132)
Protein p.S45fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017005738 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001904.3 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001904 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
NM_001904.4 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001098209.2 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_047447480.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_047447477.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_047447481.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_047447479.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_006712985.2 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_017005738.2 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
XM_047447483.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
XM_024453356.2 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224645delT c.133delT p.S45fs*2 RefSeq GRCh38/hg38
NM_001098210.2 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38
XM_047447478.1 chr3:g.(41224644_41224645) c.(133_132) p.S45fs RefSeq GRCh38/hg38

Filtering

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  • 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
CTNNB1 mutant hepatocellular carcinoma predicted - sensitive WNTinib Preclinical - Cell culture Actionable In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons in culture (PMID: 37537299). 37537299
CTNNB1 mutant colorectal cancer sensitive BC21 Preclinical Actionable In a preclinical study, BC21 inhibited growth and viability of a colorectal cancer cell line with a CTNNB1 mutation and increased beta-catenin expression in culture (PMID: 22224445). 22224445
CTNNB1 mutant endometrial cancer predicted - sensitive Cabozantinib Case Reports/Case Series Actionable In a Phase II (NCI9322/PHL86) trial, Cometriq (Cabometyx, cabozantinib) treatment resulted in a response rate of 40% (4/10) and a 12-week progression-free survival rate of 70% (7/10) in patients with endometrial cancer harboring CTNNB1 mutations, with a median PFS of 7.6 months (PMID: 31992589; NCT01935934). 31992589
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
CTNNB1 mutant hepatocellular carcinoma sensitive PMED-1 Preclinical Actionable In a preclinical study, PMED-1 decreased Wnt expression and decreased proliferation of hepatocellular carcinoma cells with Ctnnb1 mutations (PMID: 24819961). 24819961
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
CTNNB1 mutant endometrial cancer predicted - sensitive Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, Torisel (temsirolimus) treatment resulted in an increased progression-free survival (HR 0.46) but not response rate (response difference 0.00) in advanced endometrial cancer patients harboring CTNNB1 mutations (PMID: 27016228). 27016228