Glossary of Terms

Glossary of Terms
Term Definition
HGNC compliant gene names
HGVS compliant gene variant names where applicable
Consists of one or more variants, encompassing any type of molecular data, and is designed to handle complex genomic signatures
Consists of one or more drugs (i.e., combination therapy)
A group of drugs that have the same target specificity
Either a drug class or a specific therapy assigned to a molecular profile based on documented efficacy
A Disease Ontology DO term
Efficacy Evidence Data from FDA labels, guidelines and published studies connecting a molecular profile to a therapy by indication
Clinical trials conducted in US and Canada from clinicaltrials.gov
EVIDENCE TYPE
Actionable Actionable evidence is clinical or preclinical data supporting a connection between a molecular profile and a drug response. The related response type may be sensitive or resistant.
Diagnostic Diagnostic evidence connects a gene variant or category of variant to the diagnosis of a disease.
Emerging Emerging provides evidence for potential development of a gene variant as a future cancer therapy target.
Not Active Not Active indicates a particular therapy is no longer involved in any clinical trials and has no other available efficacy evidence.
Prognostic Prognostic evidence connects a gene variant or category of variant with disease outcome.
Risk Factor Risk factor evidence connects a germline gene variant or category of variant to the risk of disease onset.
PROTEIN EFFECT

Protein effect corresponds to the effect of the alteration on the intrinsic activity of the protein. It does not necessarily correspond to downstream pathway activation, etc. (i.e., a loss of function variant may result in pathway activation)

Protein effect types: gain of function, gain of function- predicted, loss of function, loss of function-predicted, no effect

NON SPECIFIC VARIANTS

There are a number of “category” variants that correspond to higher level, non-specific variant types. These are used when the data source does not provide more specificity on the variant.


act mut indicates that the variant results in a gain of protein function
amp indicates an increased number of copies of the gene
dec exp indicates decreased expression of the protein and/or mRNA
del indicates a deletion of the gene
fusion indicates a fusion of the gene, but the fusion partner is unspecified
inact mut indicates that the variant results in a loss of protein function
loss indicates loss of the gene, mRNA and protein
mutant indicates an unspecified mutation in the gene
negative indicates a lack of the gene, mRNA, and/or protein
over exp indicates overexpression of the protein and/or mRNA
positive indicates the presence of the gene, mRNA, and/or protein
rearrange indicates an unspecified rearrangement of the gene
wild-type indicates that no mutation has been detected within the gene
Generic Terms
N/A N/A is used when there is no applicable therapy in the evidence annotation
Unknown unknown Unknown unknown is used when there is no molecular profile associated with the evidence annotation