CanVar-UK

Select a gene:

Type a variant:

Try out CanVar-UK with these example variants:

BRCA1 c.5207T>C p.(Val1736Ala)
MSH2 c.1915C>T p.(His639Tyr)

Gene-Specific Information

View full page

Gene:

Chromosome:

Clinical transcript (RefSeq):

Clinical transcript (Ensembl):

Number of bases in cDNA:

Number of amino acids:

VCEP guidance

LSDs

PVS1: NMD

PVS1: Splicing

PS3/BS3: Functional assays

PM1/PP2: Constraint/Domains

PP5/BP6 : Reputable source

PP4/PS4: Case-control/Phenotype data)

PM3/BP2: Biallelic Variants

PM2/BA1/BS1: Allele frequency

BP1: Missense-benign

PS1/PM5: Other variants

PP3/BP4: In silico

PM4: Length change

PP1/BS2/BS4: Segregation

PM6/PS2: De novo

BP3/BP7: Synonymous/In-frame

BS2/BP5: Observed in controls/Alternative disease cause

Welcome to CanVar-UK, the interactive database for variant interpretation in cancer susceptibility genes

New to CanVar-UK? Start here!
Check out our introductory video which explains:

What CanVar-UK is
How to search for a variant
What resources are available
How to register for membership
How to use the diagnostic user forum

New CanVar features

Addition of 23 new cancer susceptibility genes, with particular expansion of genes implicated in haem-onc syndromes
UK Biobank exome allele frequencies across multiple ethnicities for all CanVar SNVs and small insertions-deletions
Addition of tip bubbles for in silico and functional datasets, to facilitate their inclusion in variant interpretation
Addition of new functional and epidemiological datasets from Caputo et al. (2021) and Wai et al. (2020)
A diagnostic user forum for sharing classifications, data, and forum email communication

General CanVar features

Data from functional, splicing and genetic epidemiology studies
Results from various protein and splicing impact in silico tools
Live links to ClinVar, and links to other external resources, such as VarSome, BRCA Exchange and cBioPortal
Data from control series such as gnomAD
Observation frequency in cases from UK diagnostic laboratories
Gene summary-level data, including CanVIG-UK classification guidance and exon start/end positions
A custom tool for applying the PM5 criterion of the ACMG guidance

Our resources are mostly available without registration; however, registering for CanVar-UK membership grants additional access to our diagnostic user forum, where members can post questions and/or email out to the CanVar-UK diagnostic user community, as well as view variant-level discussions and provisional classifications.

Registration is available to anyone whose work involves or relates to clinical diagnostics. During your registration, please include details about your institution and your role, and sign up using your work email address.

If you are an NHS scientist or clinician, please register with your NHS email address and your registration will be automatically approved. For other users, there may be a short wait while the CanVar-UK team reviews your application.

For general enquiries, feedback, or suggestions for new gene-specific or pan-gene resources/studies, please contact CanVIG@icr.ac.uk.
For variant-specific information, papers or resources, please create a post on the diagnostic user forum page for that variant.

Disclaimer:
The Cancer Variant Database is a repository of annotations for variants in cancer predisposition genes only.
The information on CanVar-UK is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Information displayed on CanVar-UK has not been independently verified.