Canonical and de novo splice site variants in the TP53 gene

This dataset contains sequencing and fragment analysis files of splicing assays of exonic and splice-site variants of the cancer prone gene TP53. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants. We conducted splicing analyses using a minigene construct containing TP53 exons 2 to 9 transfected into human breast cancer SKBR3 cells. Aberrant transcript profile consistent with loss of function was observed for 42 (71%) of prioritised variants, of which aberrant transcript expression was over 50% for 26 variants, and over 80% for 15 variants. Application of the observed splicing results was used to reclassify 27/59 (46%) test variants as (likely) pathogenic or (likely) benign.