Splicing Functional Assays of ATM splice-site variants identified in the BRIDGES project

This dataset corresponds to a systematic splicing analysis of splice-site variants of the breast cancer susceptibility gene ATM, which had been sequenced in 113,000 women who took part of the large-scale sequencing project BRIDGES. A set of 381 variants at the intron-exon boundaries were identified, 128 of which were predicted spliceogenic. After further filtering, we ended up selecting 56 variants for splicing analysis in four minigene constructs. Forty-eight variants impaired splicing, 29 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP-based guidelines, so that carrier patients and families may benefit from tailored prevention protocols and personalized therapies.