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

Truncating

  • 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