Fig. 4: Case-control likelihood ratio evidence per sequence ontology variant consequence compared to ClinVar clinical classification. | Nature Communications

Fig. 4: Case-control likelihood ratio evidence per sequence ontology variant consequence compared to ClinVar clinical classification.

From: Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Fig. 4: Case-control likelihood ratio evidence per sequence ontology variant consequence compared to ClinVar clinical classification.

Sankey plots for a BRCA1 and b BRCA2. The variants assigned case-control likelihood ratio (LR) evidence in favor of or against pathogenicity (with suggested supporting, moderate, strong, or very strong evidence strength) are simplistically annotated as “Pathogenic”, “Benign”, “Suggested case-control LR (ccLR) ACMG/AMP Evidence”, respectively. Variants with LRs between 0.48 and 2.08 are defined as “No evidence” in the “Suggested ccLR ACMG/AMP Evidence” panel. The clinical classification status (“ClinVar Class”) of variants was retrieved from the ClinVar database (last accessed on January 7, 2024).

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