CanVIG-UK Resources

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. 

PHE: BRCA1/BRCA2 Insertion, Deletion and Duplication Variants 

Downloadable excel sheet of BRCA1/BRCA2 insertion, deletion, duplication and insertion-deletion variants returned by Public Health England (PHE) as part of UK clinical laboratory data collection.

Release date: May 2020

Report Template: Pathogenic/Likely Pathogenic Variant Detected

Example template for reporting a BRCA1 germline pathogenic/likely pathogenic variant.

Approved: July 2020

Report Template: Variant of Uncertain Significance Detected

Example template for reporting a BRCA1 germline variant of uncertain significance.

Approved: July 2020

Report Template: No Pathogenic Variant Detected

Example template for reporting no germline pathogenic variants detected.

Approved: July 2020

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

Presentation: BA1 and BS1 for Lynch and PALB2

Presenter: Miranda Durkie

Meeting date: Friday 9 October 2020

Presentation: BA1 and BS1 for BRCA1 and BRCA2

Presenter: Miranda Durkie

Meeting date: Friday 9 October 2020

Presentation: Functional Characterisation of BRCA1 Variants
(Bouwman et al., 2020)

Presenter: George Burghel

Meeting date: Friday 8 January 2021

Presentation: Evaluation of Functional Studies
(Brnich et al., 2020)

Presenter: George Burghel

Meeting date: Friday 13 December 2019

Presentation: PVS1 / PM4 case studies

Presenter: James Drummond

Meeting date: Friday 13 November 2020

Variant Resources

 
 
 
 

Report Templates

Meeting Resources

Training Resources

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.

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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This work was supported by Cancer Research UK [C61296/A27223]