Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database

This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of 141 RAD51C variants at the intron/exon boundaries were analyzed with MaxEntScan. Twenty variants were selected and genetically engineered into a RAD51C splicing reporter minigene. We found that all the variants disrupted splicing and 16 of them could be classified as likely pathogenic. Hence, they are clinically actionable findings so variant-carriers may benefit from tailored prevention protocols and therapies.