Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Abstract

PVS1 is not necessarily warranted for splice site variants targeting four <i>PALB2</i> acceptor sites (exons 2, 5, 7 and 10). As a result, rare variants at these splice sites cannot be assumed <i>pathogenic</i>/<i>likely pathogenic</i> without further evidences. Our study puts a warning in up to five <i>PALB2</i> genetic variants that are currently reported as <i>pathogenic/likely pathogenic</i> in ClinVar.