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 coding syntax 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

ERBB2 exon 20 insertion

Gain-of-Function

ERBB2Exon20Insertion

  • Positive Hotspot mutation call

  • Functional impact is nonframeshift insertion, nonframeshift block substitution

  • Insertion impacts codons 770–783 of ERBB2