CanVIG-UK Resources
Exceptional variants/gene-specific variant reporting
UKCGG/CStAG statement on reporting practice for variants in ATM
Version: v1.0
Date: 31/10/2024
Previous Versions:
Version: v1.2
Version 1.1
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.
UKCGG/CStAG statement on reporting practice for variants in CHEK2
Version: v1.0
Date: 03/04/2024
Previous Versions:
Version: v1.2
Version 1.1
Statement to propose strategies for analysis and reporting of CHEK2 missense variants in different contexts. Please also see the Exception Variant reporting list below.
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Exception Variant reporting list
Version: v1.2
Date: 31/10/2024
Previous Versions:
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.
The list of exceptions for reporting is reviewed by UKCGG and CanVIG, and can be viewed by downloading the file here below. This is updated as required in line with changing evidence/laboratory best practice guidelines.
With emerging evidence, and as variants are added to the exception list, the list will be updated and a new version published. Old versions will be retired but will continue to be accessible here for reference.
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.