Fig. 6: Overview of the case-control likelihood ratio evidence assigned per exon and sequence ontology variant consequence for BRCA1 and BRCA2. | Nature Communications

Fig. 6: Overview of the case-control likelihood ratio evidence assigned per exon and sequence ontology variant consequence for BRCA1 and BRCA2.

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

Fig. 6: Overview of the case-control likelihood ratio evidence assigned per exon and sequence ontology variant consequence for BRCA1 and BRCA2.

Stacked bar plots of the suggested case-control likelihood ratio (LR) ACMG/AMP evidence per exon and sequence ontology variant consequence for a BRCA1 and b BRCA2. Exons are sequentially numbered to match the MANE Select transcripts. Although BRCA1 was initially described with 24 exons (GenBank Accession ID U14680.1), exon 4 is missing following further assessment of the gene; legacy exon numbering for BRCA1 is represented in brackets. Variants assigned case-control LR evidence in favor of or against pathogenicity (with suggested supporting, moderate, strong or very strong evidence strength) are simplistically annotated as “Pathogenic”, and “Benign” in the key, respectively. Variants with LRs between 0.48 and 2.08 are defined as “No evidence”.

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