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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.

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UKCGG Information Page

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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UKCGG Information Page

Exception Variant reporting list

Version: v1.2

Date: 31/10/2024

Previous Versions:

Version 1.0

Version 1.1

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.

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UKCGG Information Page

Other CanVIG-UK variant resources

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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. 

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NDRS Variant Counts - Insertion, Deletion, Duplications

Date: July 2023

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Spreadsheet of insertion, deletion, duplication and insertion-deletion variants returned by NDRS as part of UK clinical laboratory data collection. Includes key colorectal panel genes as well as BRCA1/BRCA2.

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DDX41 National Data Collection Sheet

Information regarding DDX41 variants observed in the UK, submitted by UK laboratories. Made available on behalf of the DDX41 working group. 

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VIDEO: Using Epidemiological Multifactorial Analysis Data for Variant Interpretation

Date: October 2023

 

A demonstration video which describes how to use data from Epidemiological Multifactorial Analysis Studies as part of variant interpretation, per current CanVIG_UK guidance.

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Blank Variant Classification Sheet (Pre-meeting Excel)

Downloadable excel sheet for individuals to classify the variant of the month prior to discussion at the CanVIG-UK monthly meeting.

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. 

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