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.