Gene Variant Detail

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Gene BRAF
Variant A598_T599insV
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions BRAF A598_T599insV results in the insertion of a valine (V) in the protein kinase domain of the Braf protein between amino acids 598 and 599 (UniProt.org). A598_T599insV results in increased Braf kinase activity, increased downstream Mapk and Mek signaling, and the ability to transform cells in culture (PMID: 16501605).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF A598_T599insV

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Transcript NM_004333.5
gDNA chr7:g.140753340_140753341insTAC
cDNA c.1794_1795insGTA
Protein p.A598_T599insV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_004333 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753340_140753341insTAC c.1794_1795insGTA p.A598_T599insV RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF A598_T599insV melanoma predicted - sensitive Trametinib Case Reports/Case Series Actionable In a Phase II trial, Mekinist (trametinib) treatment resulted in clinical benefit in six of nine melanoma patients harboring BRAF fusions or non-V600 BRAF mutations, including stable disease lasting 7.3 months with a tumor reduction of 8% in a patient harboring BRAF A598_T599insV, who also harbored KIT M541L (PMID: 33861486; NCT02296112). 33861486
BRAF A598_T599insV melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Tafinlar (dabrafenib) and Mekinist (trametinib) combination treatment resulted in a partial response within 4 weeks with a progression-free survival of 4.6 months in a patient with metastatic melanoma harboring BRAF A598_T599insV (PMID: 28800030). 28800030
BRAF A598_T599insV melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in limited response in the primary tumor, but regression of the abdominal lymph node and groin metastases in a patient with metastatic melanoma harboring BRAF A598_T599insV, with a decrease in the variant allele frequency of BRAF A598_T599insV (PMID: 31824282). 31824282