Oncomine™ Breast cfDNA Research Assay v2


Variant type	Oncomine™ Gene class	Oncomine™ Variant class	Annotation criteria
Copy number amplification	Gain-of-Function	Amplification	SVTYPE = "CNV" FILTER = "GAIN" Occurs in a designated copy-gain gene
Loss-of-function truncating de novo mutation	Loss-of-Function	Truncating	Positive mutation call Functional impact is frameshift block substitution, frameshift deletion, frameshift insertion, or nonsense Occurs in a de-novo calling gene Meets de-novo thresholds
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