Oncomine™ Lung cfDNA Assay


Variant type	Oncomine™ Gene class	Oncomine™ Variant class	Annotation criteria
Missense hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Functional impact is missense Transcript and codon position occur in predefined missense hotspot list
In-frame hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Function, transcript, and coding syntax occur in predefined in-frame hotspot list
Splice site hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript, location, and exon occur in predefined splice site hotspot list
Intronic hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript and ID occur in predefined intronic hotspot list
Synonymous hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Functional impact is synonymous Transcript and coding syntax occur in predefined synonymous hotspot list
EGFR exon 19 deletion^[1]	Gain-of-Function	EGFRExon19Deletion	Positive mutation call Functional impact is nonframeshift deletion, nonframeshift block substitution Deletion impacts codons 744–761 of EGFR^[2]
EGFR exon 20 insertion^[1]	Gain-of-Function	EGFRExon20Insertion	Positive mutation call Functional impact is nonframeshift insertion, nonframeshift block substitution Insertion impacts codons 762–775 of EGFR or variant is in EGFR exon 20 insertion confirmed list^[2]
ERBB2 exon 20 insertion^[1]	Gain-of-Function	ERBB2Exon20Insertion	Positive mutation call Functional impact is nonframeshift insertion, nonframeshift block substitution Insertion impacts codons 770–783 of ERBB2^[2]
MET exon 14 skipping^[1]	Gain-of-Function	METExon14Skipping	Positive mutation call Location is splice site in MET exon 14, is intronic >= 4bp deletion in 30 nucleotides preceding MET exon 14, or variant is in MET exon 14 skipping confirmed list

¹ For more information, see Ion Torrent class-based variants.

² In some cases the assay design may not cover the entire codon range.