Somatic Variant Interpretation Workshop 2018

Somatic Variant Interpretation Workshop 2018

Conference Rooms A&B |  Birmingham Research Park Ltd | Vincent Drive | Edgbaston | Birmingham | B15 2SQ

Aim: To develop guidelines for a consensus approach to interpretation of somatic variants identified through genomic tests in patients with solid tumours and haematological malignancy.




Tea and coffee on arrival



Welcome and Introduction

Chris Wragg       


Feedback from:

Solid Tumour EQA



Jenni Farley

Ashley Cartwright


How to establish pathogenicity

How to establish actionability

Kim Reay

Kirsty Russell


UK NEQAS for Mol Gen: G-TACT online module

Sandi Deans


Lightening presentations (5mins each + time for questions)

Processes to ensure standardisation of variant interpretation across scorers

Somatic variant interpretation tool

ACGS bioinformatics BPG

Current HMDS reporting processes

Germline variant interpretation - how can it be applied to somatic variants/actionability

Case presentation

Case presentation

Variant interpretation methods and interesting cases

Use of commercial variant interpretation software




Matthew Smith (Moth Path, Birmingham)

Kirsty Russell (Bristol)

Kirsty Russell

Jan Taylor (Leeds HMDS)

Dawn O'Sullivan (Aberdeen)


Paula Page (Birmingham)

Mamoona Munir (Birmingham)

Nicola Roberts (Manchester)

Dorte Wren (Royal Marsden):


Results of the practice variant classification

Results of questionnaire

Joanne Mason





Focussed discussion:

  • Establishing pathogenicity
  • Establishing actionability
  • Differences in approach between Molecular Pathology and Haemato-Oncology
  • Use of open access databases
  • Mainstreaming and education
  • Developing guidelines for a consensus approach to Somatic Variant Interpretation
  • Identify working groups


Chris Wragg


Next steps and AOB

Chris Wragg


End of meeting


Co-funded by Association for Clinical Genomic Science (ACGS) and Health Education England (HEE)

    Latest News

  • ACGS FRCPath part 2 study group

    posted 15th October 2018  |  0 Comments

    The ACGS FRCPath part 2 study group will start at the end of November. This course is aimed at those undertaking the viva in 2019. The course will comprise of an initial face to face session followed by the use of online discussion forums.

    Read more