Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ p.Gln209Pro (p.Q209P)
(
ENST00000286548.9 )
GNAQ p.Gln209Pro (p.Q209P) ( ENST00000286548.9 ) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- A 26-year old patient presented with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma. Five of his metastases were evaluated using whole genome sequencing. A GNAQ (Q209P) mutation was identified as unanimously present in all five tumors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1533
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2317
- Variant URL
- https://civic.genome.wustl.edu/links/variants/604
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 24504448
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |