Variant Groups¶
Variant Groups provide user-defined grouping of Variants within and between genes based on unifying characteristics.
Understanding Variant Groups
Variant groups allow users to group variants from a single Gene or multiple Genes that have similar clinical consequences.
Example uses:
Variants that confer resistance/sensitivity to a class of drugs (e.g., EGFR TKI Resistance)
Categorical or Bucket Variants (e.g., BRAF V600)
Variants with strong data to support a very similar effect on protein function (e.g., loss-of-function, activating)
Functional Characteristics (e.g., Fusion Groups)
Variants that can be effectively combined when considering patient outcomes/treatment
Variant groups can associate multiple related variants within or between genes. Each variant can belong to one or more variant groups, these act to combine functionally similar or clinically related variants into a single entity. For example, ‘FGFR Fusions’ is a group that contains several gene fusions where FGFR2 (or FGFR3) is involved in a fusion with various 3’ partner genes, and ‘Imatinib Resistance Mutations’ is a group of variants that confer resistance to imatinib treatment. A variant group may also contain variants from multiple genes. For example, the group ‘EGFR TKI Resistance’ consists of variants in EGFR, MET, and KRAS.
Variant Group Attributes
Attribute |
Description |
Source |
|---|---|---|
Name |
Name of the Variant Group |
CIViC |
Summary |
User-defined summary of the clinical relevance of this variant group. |
CIViC |
Sources (PubMed IDs) |
A list of PubMed IDs referring to evidence supporting statements made in the Variant Group’s description. Source descriptions (e.g. ‘Weisberg et al., 2007, Nat. Rev. Cancer’) are pulled from the PubMed database at the time of submission, and are not editable. |
CIViC (PubMed) |
Variants |
User-defined list of variants in the variant group. |
CIViC |
CURATING VARIANT GROUPS
Variants within a Variant Group can be derived from different Gene Records.
Create a Variant Group
Users with Editor or Admin roles are allowed to create a new Variant Group. To create a new Variant Group use the “Add Variant Group” button below the list of Variants on any Gene/Variant page. Multiple Variants from multiple Genes may then be added by using the + button next to the Variant field. Note that a Variant must exist in CIViC in order to be added to a Variant Group. To exist, a Variant must have at least one Evidence Statement. You can add a new Variant by creating a new Evidence Item using the Add Evidence form.
Add to a Variant Group
Variants can be added to a Variant Group by using the ‘edit’ function of a Variant Group.