Oncomine™ Colon 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
Loss-of-function truncating hotspot mutation	Loss-of-Function	Truncating	Positive mutation call Function, transcript, and coding syntax occur in predefined truncating hotspot list Occurs in a loss-of-function gene
MNV hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript and coding syntax occur in MNV hotspot list
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]

¹ For more information, see .

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