Bioinformatic splice prediction scores* and in-vitro splicing assay results.

*Bracketed percentages refer to the difference between variant and wild-type scores as a proportion of the wild-type score. NSC, no sites created (no scores provided by bioinformatic program output). Positive values for HSF matrices and MaxEntScan represent an increased likelihood of creating a de novo site when compared with the wild-type sequence where the variant occurs. Negative values represent a decreased likelihood. Positive values for ESEfinder represent an increase in strength for the enhancer motif as a result of the variant. The proximal consensus site is taken as the donor or acceptor site of the exon in which the variant occurs. Variant scores for NNsplice are for splice sites created by the variant, except for BRCA1:c.4484G>C (p.Arg1495Thr) for which the variant score is for the consensus splice junction in the presence of the variant.