Oncomine™ Myeloid Research Assay

Variant type

Oncomine™ Gene class

Oncomine™ Variant class

Annotation criteria

Gene fusion

Gain-of-Function

Fusion

  • SVTYPE = "Fusion"

  • FILTER = "PASS"

  • Is a targeted fusion isoform

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 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

Gain-of-function truncating hotspot mutation

Gain-of-Function

Hotspot

  • Positive mutation call

  • Function, transcript, and coding syntax occur in predefined truncating hotspot list

  • Occurs in a gain-of-function gene

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

FLT3 internal tandem duplication

Gain-of-Function

FLT3ITD

  • Positive mutation call

  • Functional impact is a non-frameshift insertion in exon 14/15 of FLT3 or SVTYPE = "FLT3ITD"