CTNNB1 S45F

CI-VAR-00004070Explore in graph →NP_001895.1:p.Ser45PheNM_001904.3:c.134C>TClinVar 17588 CIViC 1286 rs121913409

Curated evidence

Evidence by cancer (11 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–11 of 11 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Desmoid Fibromatosis6
CTNNB1 S45F	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID2974 Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC	civic
CTNNB1 S45F	(prognostic)	Prognostic	B	Supports Poor Outcome	3	accepted	EID2976 Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC	civic
CTNNB1 S45F

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
17588	Pathogenic; other	no assertion criteria provided	0	Hepatocellular carcinoma; Nephroblastoma; Gallbladder cancer; Neoplasm; Glioma; Desmoid tumor; Embryonal tumor with multilayered rosettes; Embryonal rhabdomyosarcoma	somatic	5	Oct 30, 2020	clinvar

Wilms Tumor5
CTNNB1 S45F	(diagnostic)	Diagnostic	B	Supports N/A	3	rejected	EID6083 Variant found in tumors samples in two patients with pediatric Wilms’ tumor. PMID 19024596 · Su et al., 2008 · Open in CIViC	civic
CTNNB1 S45F	(diagnostic)	Diagnostic	B	Supports N/A	4	rejected	EID6084 This study analysed all five loci (WT1, CTNNB1, WTX, TP53 and the imprinted 11p15 region) in 120 Wilms tumors, and identify CTNNB1 mutation in 15% samples. Data on the 5 loci stratify Wilms tumors int… (full text at CIViC) PMID 22470196 · Scott et al., 2012 · Open in CIViC	civic
CTNNB1 S45F	(diagnostic)	Diagnostic	B	Supports N/A	4	rejected	EID6085 Exon 3 of the CTNNB1 gene and its flanking regions encompassing mutational hot spots of the gene were examined by PCR-based methods in 24 tumors from 20 Wilms tumor (WT) patients. Six tumors (6/24, 25… (full text at CIViC) PMID 12239584 · Kusafuka et al., 2002 · Open in CIViC	civic
CTNNB1 S45F	(diagnostic)	Diagnostic	B	Supports N/A	5	rejected	EID6086 153 primary Wilms tumor samples from 150 patients were analyzed for mutations in the WT1 and CTNNB1 genes. Ten WT samples had the S45F, and 9 of them also had WT1 mutation. This study concluded a high… (full text at CIViC) PMID 11103785 · Maiti et al., 2000 · Open in CIViC	civic
CTNNB1 S45F	(diagnostic)	Diagnostic	C	Supports N/A	2	rejected	EID6082 One patient with a novel WT1 pS50X germ line mutation who developed bilateral Wilms tumors. One of the 4 independent tumor sites showed LOH of the wild type WT1 allele, and S45F in the CTNNB1 gene. PMID 17551084 · Uschkereit et al., 2007 · Open in CIViC	civic