Oncomine™ Lung Cell‑Free Total Nucleic Acid Research 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

RNA exon variant

Gain-of-Function

RNAExonVariant

  • SVTYPE = "RNAExonVariant" or "Fusion"

  • FILTER = "PASS"

  • Is a targeted RNA exon variant

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

  • 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

Synonymous hotspot mutation

Gain-of-Function

Loss-of-Function

Hotspot

  • Positive mutation call

  • Functional impact is synonymous

  • Transcript and coding syntax occur in predefined synonymous hotspot list