BRAF N486_T491delinsK
Gene Variant Detail

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Gene BRAF
Variant N486_T491delinsK
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF N486_T491delinsK results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 486 to 491, combined with the insertion of a lysine (K) at the same site (UniProt.org). N486_A491delinsK confers a gain of function to Braf, as indicated by increased ERK activation and transformation of cultured cells (PMID: 30867592).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF N486_T491delinsK

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Transcript NM_004333.6
gDNA chr7:g.140778036_140778050del15
cDNA c.1458_1472del15
Protein p.N486_T491delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_004333 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778036_140778050del15 c.1458_1472del15 p.N486_T491delinsK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF N486_T491delinsK lymphatic system cancer predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a Phase II trial, treatment with Cotellic (cobimetinib) in patients with histiocytic neoplasms resulted in a PET overall response rate of 89% (16/18), with complete response in 72% (13/18) and partial response in 17% (3/18), and resulted in stable disease in 6% (1/18) of patients, including a complete response in a patient with Langerhans cell histiocytosis harboring BRAF N486_T491delinsK (PMID: 30867592; NCT01953926). 30867592
BRAF N486_T491delinsK Advanced Solid Tumor predicted - sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited viability of transformed cells expressing BRAF N486_T491delinsK in culture (PMID: 30867592). 30867592