Oncomine™ BRCA Research Assay

Variant type	Oncomine™ Gene class	Oncomine™ Variant class	Annotation criteria
Copy number deletion	Loss-of-Function	Deletion	SVTYPE = "CNV" FILTER = "LOSS" SUBTYPE = "GeneCNV"
Copy number exon deletion	Loss-of-Function	ExonDeletion	SVTYPE = "CNV" FILTER = "LOSS" SUBTYPE = "BigDel"
Copy number exon duplication	Loss-of-Function	ExonDuplication	SVTYPE = "CNV" FILTER = "GAIN" SUBTYPE = "BigDup"
Long deletion	Loss-of-Function	LongDel	Positive mutation call SVTYPE = "LongDel"
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 designated loss-of-function gene
Missense hotspot mutation	Loss-of-Function	Hotspot	Positive mutation call Functional impact is missense Transcript and codon position occur in predefined missense hotspot list
Splice site hotspot mutation	Loss-of-Function	Hotspot	Positive mutation call Transcript, location, and exon occur in predefined splice site hotspot list