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. 

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

Release date: July 2021

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

Approved: June 2021

Example template for reporting a positive BRCA pathogenic/likely pathogenic variant in predictive testing.

Approved: June 2021

Example template for reporting a positive BRCA1/PALB2 pathogenic/likely pathogenic variant in predictive testing.

Approved: June 2021

Example template for reporting a positive BRCA2 pathogenic/likely pathogenic variant in predictive testing.

Approved: June 2021

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

Approved: June 2021

Example template for reporting no BRCA germline pathogenic variants detected.

Approved: June 2021

Example template for reporting no BRCA germline pathogenic variants detected when performing a predictive test.

Approved: June 2021

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

Presentation: Variant Reinterpretation and Reclassification
 

Presenter: Lucy Loong

Meeting date: Friday 11 June 2021

Presentation: Clinical considerations of variant reclassification
 

Presenter: Helen Hanson and Miranda Durkie

Meeting date: Friday 11 June 2021

Variant Resources

 
 
 
 

Example 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.