Gene Variant Detail

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Gene BRAF
Variant G466A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G466A (also reported as G465A) lies within the protein kinase domain of the Braf protein (UniProt.org). The functional effect of G466A (also reported as G465A) is conflicting as it demonstrates both intermediate Braf kinase activity (PMID: 15035987) and low Braf kinase activity (PMID: 28783719), leads to Ras-dependent activation of downstream Erk in cell culture (PMID: 28783719), in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and results in decreased interaction with Mek in an in vitro assay (PMID: 38588399).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G466X BRAF G466A

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Transcript NM_004333.6
gDNA chr7:g.140781611C>G
cDNA c.1397G>C
Protein p.G466A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378471.1 chr7:g.140778000C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777053C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778075C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_004333 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781611C>G c.1397G>C p.G466A RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777053C>G c.1397G>C p.G466A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G466A gastrointestinal system cancer no benefit Trametinib Case Reports/Case Series Actionable In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, resulted in stable disease in a patient with gastrointestinal system cancer harboring BRAF G466A (PMID: 31924734; NCT02465060). 31924734
BRAF G466A lung adenocarcinoma no benefit Trametinib Case Reports/Case Series Actionable In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, resulted in progressive disease in 1 and stable disease in 2 patients with lung adenocarcinoma harboring BRAF G466A (PMID: 31924734; NCT02465060). 31924734
BRAF G466A prostate cancer no benefit Trametinib Case Reports/Case Series Actionable In a Phase II trial (NCI-MATCH), Mekinist (trametinib) treatment did not demonstrate clinical activity in patients with advanced solid tumors or lymphoma harboring BRAF fusion or non-V600 mutations, resulted in progressive disease in a patient with prostate cancer harboring BRAF G466A (PMID: 31924734; NCT02465060). 31924734
BRAF G466A lung non-small cell carcinoma no benefit Vemurafenib Case Reports/Case Series Actionable In a Phase II trial, Zelboraf (vemurafenib) treatment did not result in response in the cohort of 15 non-small cell lung cancer patients with non-V600 BRAF mutations, which included 1 patient harboring BRAF G466A, and enrollment in this cohort was discontinued (PMID: 31959346; NCT02304809). 31959346
BRAF G466A collecting duct carcinoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Tafinlar (dabrafenib) and Mekinist (trametinib) combination treatment resulted in decreased FDG avidity in the metastases in a patient with metastatic Bellini duct carcinoma harboring BRAF G466A, whose disease remained stable for 11 months (PMID: 33669326). 33669326
BRAF G466A lung non-small cell carcinoma predicted - sensitive LTT462 + LXH 254 Case Reports/Case Series Actionable In a Phase Ib trial, LTT462 and LXH 254 combination therapy was well tolerated and resulted in an unconfirmed partial response (PR) in 4% (2/49) and stable disease (SD) in 33% (16/49) of patients with advanced or metastatic KRAS- or BRAF-mutant non-small cell lung cancer, with 1 patient harboring BRAF G466A achieving SD with over 25% tumor reduction (Ann Oncol 31 (suppl 4):S881-S882; NCT02974725). detail...