Examples

Annotated examples of Cat-VRS categorical variant representations.

By Constraint

Constraint	Representative examples
Adjacency	?::ZNF384(ncbi:171017) BCR(ncbi:613)::ABL1(ncbi:25) FGFR2(hgnc:3689)::v v::NTRK1(hgnc:8031)
Copy Change	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 TP53 Loss TP53 Loss
Copy Count	GRCh38 Xp22.31(chrX:6978350-7594949)x3 GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3
Defining Allele	EGFR L858R NC_000001.11:g.1699974C>G NM_004958.4(MTOR):c.5992_5993del (p.Met1998fs) NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) PIK3CA p.R38H
Defining Location	BRAF V600 (annotated) BRAF V600 GRCh38 Xp22.31(chrX:6978350-7594949)x3 GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 TP53 Loss (annotated) TP53 Loss
Feature Context	BRCA2 loss of function variants NRAS functionally normal variants PIK3CA p.R38H TP53 Loss (annotated) TP53 Loss
Function	BRCA2 loss of function variants NRAS functionally normal variants PIK3CA p.R38H
None	t(2;15)(q23.1;q25.3)