Table 6.
Nomenclature inconsistencies by Ion Reporter™
| Gene | Expected variant | Ion Reporter™ variant |
|---|---|---|
| KIT | c.1672_1674dupAAG p.(Lys558dup) | c.1670_1671insGAA p.([Lys558dup)] |
| c.1679_1681delTTG p.(Val560del) | c.1675_1677delGTT p.(Val559del) | |
| c.1735_1737 p.(Asp579del) | c.1733_1735delATG p.(Asp579del) | |
| c.1730_1738del p.(Pro577_Asp579del) | c.1728_1736del p.(Pro577_Asp579del) | |
| EGFR | c.2303_2311dup p.(Ser768_Asp770dup) | c.2300_2301insCAGCGTGGA p.(Ala767_Ser768insSerValAsp) |
| BRAF | c.1798_1799delGTinsAA p.(Val600Lys) | c.1798_1799delGTinsAA p.(Val600Lys) plus c.1798G > A p.(Val600Met) |
Five variants were identified by the IonReporter™ analysis workflow with the incorrect nomenclature and checked by Alamut Visual v2.7.1 (Interactive Biosoftware). A large proportion of nomenclature errors were deletions, insertions and duplications