Oncomine™ Pan‑Cancer Cell‑Free Assay

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

Gene fusion

Gain-of-Function

Fusion

  • SVTYPE = "Fusion"
  • FILTER = "PASS"
  • Is a targeted fusion isoform

Loss-of-function mutation

Loss-of-Function

Deleterious

  • 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

Gain-of-Function

Loss-of-Function

Hotspot

  • Positive mutation call

  • Variant's 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, location, and coding syntax occur in predefined intronic hotspot list

MNV hotspot mutation

Gain-of-Function

Loss-of-Function

Hotspot

  • Positive mutation call

  • Transcript and coding syntax occur in MNV hotspot list