Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Leu545His (p.L545H)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Leu545His (p.L545H) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- Using a mutation screen in the BRAFV600E melanoma cell line A375, the L505H variant was identified as conferring resistance to vemurafenib. Analysis of the mutation in T293 cell lines found that the L505H mutant alone or with V600e had greater kinase activity and increased the levels of phospho-MEK. Finally, transduction of Ba/F3 cells with BRAF V600E/L505H IL3 independent proliferation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1668
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/658
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24112705
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |