Session # P-002

ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

This poster has been honored with the "Poster of Distinction" at CGA-ICG

Take home points: 

  1. Here present customization of the original ACMG/AMP rules for ATM and PALB2.  

  1. Recommendations include exclusion of >40% of codes for variant interpretation and a further gene- and disease-specific modification for most of the others. 

  1. In a pilot study of >30 variants for each gene resulted in a majority agreement with consensus ClinVar interpretations reduced conflicting/VUS interpretations from 11 to 5 for ATM and from 13 to 7 for PALB2.  

  1. Gene specific variant interpretation guidelines can help resolve uncertain and discrepant variant classifications.

  • Authors: Terra Brannan; Megan Holdren; Marcy E. Richardson; Deborah Ritter; Colin Young; Tina Pesaran; Lauren Zec; Susan Hiraki; Michael Anderson; Melissa Southey; Clare Turnbull; Marc Tischkowitz; Huma Rana; Shannon McNulty Gray; Sean Tavtigian; Logan Walker; William D. Foulkes; Alvaro N.A. Monteiro; Sarah Brnich; Melissa Cline; Amanda B. Spurdle; Miguel de la Hoya; Fergus J. Couch
  • Conference: CGA-IGC 2023
  • Date: Thursday, Oct 26, 2023 8:00am - 1:30pm

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