Gene Variant Detail

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Gene BRAF
Variant L597V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597V lies within the protein kinase domain of the Braf protein (UniProt.org). L597V results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and and induces cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597V

BRAF mutant BRAF L597X BRAF L597V

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Transcript NM_004333.6
gDNA chr7:g.140753346G>C
cDNA c.1789C>G
Protein p.L597V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749334A>C c.1789T>G p.L597V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749334A>C c.1789T>G p.L597V RefSeq GRCh38/hg38
NM_004333 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753346G>C c.1789C>G p.L597V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L597V 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 L597V (PMID: 26343582). 26343582
BRAF L597V endometrial 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 stable disease with a progression-free survival of 7.9 months in a patient with endometrial adenocarcinoma harboring BRAF L597V (PMID: 31924734; NCT02465060). 31924734
BRAF L597V lung adenocarcinoma sensitive Dabrafenib + Trametinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were sensitive to the combination treatment of Tafinlar (dabrafenib) and Mekinist (trametinib) in culture, demonstrating inhibition of cell growth (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma sensitive Trametinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were sensitive to treatment with Mekinist (trametinib) in culture, demonstrating inhibition of cell growth (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma sensitive Lifirafenib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were sensitive to treatment with Lifirafenib (BGB-283) in culture, demonstrating inhibition of cell growth (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma sensitive LXH 254 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were sensitive to treatment with LXH 254 in culture, demonstrating inhibition of cell growth (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Dabrafenib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Tafinlar (dabrafenib) in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Encorafenib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Braftovi (encorafenib) in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Vemurafenib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Zelboraf (vemurafenib) in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Tovorafenib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Ojemda (tovorafenib) in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant LY3214996 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with LY3214996 in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant MK-8353 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with MK-8353 in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Ravoxertinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Ravoxertinib (GDC-0994) in culture (PMID: 32540409). 32540409
BRAF L597V lung adenocarcinoma resistant Ulixertinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a lung adenocarcinoma patient harboring BRAF L597V were resistant to treatment with Ulixertinib (BVD-523) in culture (PMID: 32540409). 32540409