The PALB2 c.1042C>A (p.Gln348Lys; Q348K) variant has been reported in ClinVar with predominantly uncertain significance submissions, with additional likely benign and benign submissions.
clinvar ↗This variant is present in gnomAD v4.1 at an overall allele frequency of 0.00304% (49/1,613,732 alleles) with a highest observed population frequency of 0.00415% in European non-Finnish individuals; this is below the PALB2 BS1 threshold of 0.01% and above the PM2 threshold of 0.000333%.
gnomad_v4 ↗ cspec ↗SpliceAI predicts no significant splice impact for this variant, with a maximum delta score of 0.00, which is below the PALB2 PP3 splicing threshold of 0.2.
spliceai ↗ cspec ↗Because this is a PALB2 missense variant, BP1 is met at supporting strength under the PALB2 specification, while PVS1 is not met because the variant is not a truncating or canonical splice-site loss-of-function change.
cspec ↗
