Annotation Detail
Information
- Associated Genes
- CTNNB1
- Associated Variants
-
CTNNB1 p.Thr41Ala (p.T41A)
(
ENST00000396185.8,
ENST00000349496.11,
ENST00000396183.7,
ENST00000405570.6,
ENST00000441708.2,
ENST00000431914.6,
ENST00000453024.6,
ENST00000450969.6,
ENST00000433400.6,
ENST00000642248.1,
ENST00000642315.1,
ENST00000642426.1,
ENST00000642836.1,
ENST00000642886.1,
ENST00000642986.1,
ENST00000642992.1,
ENST00000643031.1,
ENST00000643297.1,
ENST00000643541.1,
ENST00000643977.1,
ENST00000643992.1,
ENST00000644138.1,
ENST00000644524.1,
ENST00000644678.1,
ENST00000644867.1,
ENST00000644873.1,
ENST00000644906.2,
ENST00000645210.1,
ENST00000645276.1,
ENST00000645320.1,
ENST00000645493.1,
ENST00000645900.1,
ENST00000645982.1,
ENST00000646116.1,
ENST00000646174.1,
ENST00000646369.1,
ENST00000646381.1,
ENST00000646725.1,
ENST00000647264.1,
ENST00000647390.1,
ENST00000647413.2,
ENST00000715148.1,
ENST00000715149.1,
ENST00000715151.1 )
CTNNB1 p.Thr41Ala (p.T41A) ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000441708.2, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645320.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 ) - Associated Disease
- Desmoid Fibromatosis
- Source Database
- CIViC Evidence
- Description
- In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The CTNNB1 mutation spectra concerned mainly three point mutations in two codons (41 and 45): T41A was identified in 132 cases (59%); S45F was identified in 49 samples (22%); and S45P was identified in 27 samples (12%). None of the 175 lesions mimicking desmoid tumors analyzed harbored any CTNNB1 mutations.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5070
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1290
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1285
- Rating
- 4
- Evidence Type
- Diagnostic
- Disease
- Desmoid Fibromatosis
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 22766794
Drugs