|Variant||Gene||Type||COSMIC ID||DNA Change (Coding Nucleotide)||Exon|
|SEPT14 copy number gain||SEPT14||CNV|
The SEPT14 gene has been described as a fusion partner with EGFR in up to 4% of glioblastomas. In that context, glioma cell lines harboring this gene fusion were found to be susceptible to EGFR inhibitors in vitro. The functional significance of an isolated partial amplification of this gene would be of uncertain significance. Detection of rearrangement of this locus with a fusion partner such as EGFR would require an alternative methodology such as RNAseq or FISH analysis.