CanVIG-UK Resources
Exceptional variants/gene-specific variant reporting
UKCGG/CStAG statement on reporting practice for variants in ATM
Version: v2.2
Date: 08/10/2025
Statement to propose strategies for analysis and reporting of ATM variants in different contexts.
Where analysis is recommended, variants should be interpreted and classified using ATM VCEP guidelines and CanVIG gene-specific recommendations.
Previous Versions:
UKCGG/CStAG statement on reporting practice for variants in "moderate risk" breast cancer susceptibility genes
Version: v1.0
Date: 08/10/2025
Statement to propose strategies for analysis and reporting of variants in "moderate risk" breast cancer susceptibility genes. **Please note this document supersedes the previous reporting practice statement for variants in CHEK2.**
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Previous Versions:
Version 1.1
UKCGG/CStAG statement on extension of testing undertaken under R444.1 to include PALB2
Version: v1.0
Date: 12/02/2025
Statement to recommend that patients tested under R444.1 receive germline genetic testing of BRCA1, BRCA2 AND PALB2.
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Previous Versions:
Version: v1.2
Version 1.1
UKCGG/CanVIG framework for germline follow-up of variants picked up through tumour testing
Version: v1.0
Date: 11/06/2025
Statement to document the recommendations of the UKCCG/CStAG for germline follow-up of variants identified through tumour testing or ctDNA sampling.
Previous Versions:
Version: v1.2
Version 1.1
Exception Variant reporting list
Version: v2.0
Date: 09/10/2025
There are certain genes in which variability in penetrance associated with different variants is such that not all variants will be reported by NHS laboratories/UK practice.
It is not feasible to maintain a formal whitelist of exception variants, but laboratory teams are encouraged to communicate rationale for reporting of non-standard variants via CanVar-UK.
Previous Versions:
Other CanVIG-UK variant resources
CanVIG-UK Summary Variant List (live sync)
A summary list of variants previously classified by the CanVIG-UK group or currently in progress. For full consensus classifications, please see CanVar-UK or ClinVar.
Please note; variant review by CanVIG-UK is limited to variants dictated by members as pertinent to the development of cancer variant interpretation guidance. At this time, we do not have the capacity to formally review variants outside this remit.
External Resources
ACGS
The Association for Clinical Genomic Science brings together scientists working within genetics into one professional association.
JMG Paper
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Journal of Medical Genetics
Published: 13 March 2020.
UKCGG
The UK Cancer Genetics Group.
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A multidisciplinary organisation for UK clinicians, counsellors & scientists interested in cancer susceptibility genetics.
ACMG
The American College of Medical Genetics variant interpretation framework can be found on their website.