Gene Variant Detail

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Gene BRAF
Variant G464V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF G464V (also reported as G463V) lies within the protein kinase domain of the Braf protein (UniProt.org). G464V results in increased Braf kinase activity and increased downstream Mek and Erk activation (PMID: 12068308, PMID: 26343582), and in one of two cell lines, increased cell proliferation and viability compared to wild-type Braf in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G464V

BRAF mutant BRAF G464X BRAF G464V

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Transcript NM_004333.6
gDNA chr7:g.140781617C>A
cDNA c.1391G>T
Protein p.G464V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_004333 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G464V 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 a patient with lung adenocarcinoma harboring BRAF G464V (PMID: 31924734; NCT02465060). 31924734
BRAF G464V Advanced Solid Tumor resistant Vemurafenib Clinical Study - Cohort Actionable In a Phase II trial (MyPathway), Zelboraf (vemurafenib) treatment resulted in an objective response in only 4% (1/23) of patient with advanced solid tumors harboring non-V600 BRAF mutations, 2 of the non-responding patients harbored BRAF G464V (PMID: 29320312; NCT02091141). 29320312
BRAF G464V Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF G464V (PMID: 26343582). 26343582
BRAF G464V triple-receptor negative breast cancer sensitive SIJ777 Preclinical - Cell culture Actionable In a preclinical study, SIJ777 inhibited proliferation of a triple-negative breast cancer cell line harboring BRAF G464V in culture (PMID: 33917428). 33917428