SMARCB1 and schwannomatosis: Furthermore, MPNSTs were also noted in two members of a family with schwannomatosis and two co-occurring SMARCB1 alterations, a missense mutation in exon 7 (c.864C > G; p.Asn288Lys) and a splice-site mutation located 12-bp upstream of exon 9 (c.1032-12C > G) which is predicted to lead to the insertion of 11 bp of intronic sequence in the mutant transcript (Hadfield et al. 2008; Evans et al. 2012; Smith et al. 2012b).