Experimental assays can identify active exonic SREs:BRCA1/2 as exemplars
It has been recommended that a precise and detailed map of active SREs
be established for each gene of interest in order for SRE prediction to
be useful in clinical diagnostics (Houdayer et al., 2012). A large
proportion of missense and synonymous BRCA1 and BRCA2variants are currently catalogued in ClinVar
(https://www.ncbi.nlm.nih.gov/clinvar/) as (likely) benign or VUS.
We describe below published findings and our own bioinformatic analysis
of existing experimental data, which reveal that some of these variants
are located in putative exonic SREs. Variant nomenclature is based on
NM_007294.3 for BRCA1 and NM_000059.3 for BRCA2 .