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ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics bit.ly/4bHELwk #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics #SingleNucleotideVariant #SNV #ENIGMA
Screenshot of Figure 2: Reclassification of VUS at 3 distinct transition points (ACMG/AMP, ACMG/AMP + SVI, and ENIGMA): A. The top section of the figure shows the number of variants n as bars on the y-axis and their classification into (benign, likely benign, and variants of uncertain significance [VUS]) in their corresponding color (green, light green, and yellow, respectively) at 3 distinct transition points t1, t2, and t3 (x-axis). The transition points refer to the initial interpretation and the 2 reanalysis: American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) 2015 (t1) represent the baseline VUS for this study. These variants were classified as VUS between January 2018 and November 2023. Sequence Variant Interpretation Working Group (SVI) recommendations from 2015 onward were considered, depending on the time of classification, eg, PM2 used as supporting evidence strength for all variants. ACMG/AMP + SVI (t2) lists variants that have been reclassified using new annotated data as of November 2023 (eg, ClinVar, BRCA Exchange, literature, and in-house data) and using all current recommendations from the SVI as of November 2023. Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Variant Curation Expert Panels (t3) are variants that have been reclassified based on the same new data as in t2 but using the ENIGMA specifications. The transient lines between the 3 bars, and the numbers indicate how many variants have changed from one class to another between 2 time points.
March 11, 2025 at 7:51 PM