Annotation Detail
Information
- Associated Genes
- MYD88
- Associated Variants
-
MYD88 p.Leu260Pro (p.L260P)
(
ENST00000417037.8,
ENST00000421516.3,
ENST00000650112.2,
ENST00000650905.2,
ENST00000651800.2,
ENST00000652213.1 )
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 ) - Associated Disease
- Waldenström's Macroglobulinemia
- Source Database
- CIViC Evidence
- Description
- In a study of 30 patients with Waldenström’s macroglobulinemia, 87% had MYD88(L265P) mutations. Waldenstrom macroglobulinemia cells expressing MYD88(L265P) were treated with an MYD88 homodimerization inhibitor or an IRAK 1/4 kinase inhibitor. The cells showed a decrease in staining of NF-kappa-B p65 phosphorylation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1641
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3742
- Variant URL
- https://civic.genome.wustl.edu/links/variants/424
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Waldenström's Macroglobulinemia
- Evidence Direction
- Supports
- Drug
- IMG-2005-5,IRAK-1/4 Inhibitor
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22931316
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| IMG-2005-5 | Sensitivity | true |
| IRAK-1/4 Inhibitor | Sensitivity | true |