Variant · Snv

CTNNB1 T41A

CI-VAR-00004321Explore in graph →NP_001895.1:p.Thr41AlaNM_001904.3:c.121A>GClinVar 17580 CIViC 1285 rs121913412

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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 Fibromatosis5
CTNNB1 T41A	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID2973 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 T41A	(prognostic)	Prognostic	B	Supports Better Outcome	3	accepted	EID3044 In an analysis of 138 desmoid fibromatosis tumors, which is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence, 117 tumors (85%) had CTNNB1 mutations. Three discrete… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC	civic
CTNNB1 T41A

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
17580	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Desmoid tumor caused by somatic mutation; Hepatoblastoma; Atypical endometrial hyperplasia; Desmoid tumor; Neoplasm; Adamantinous craniopharyngioma; Medulloblastoma non-WNT/non-SHH; Adrenal cortex carcinoma; Calcifying nested epithelial stromal tumor of the liver; Embryonal rhabdomyosarcoma	germline/somatic	8