Other relevant germline mutations included a SMARCB1 deletion in a patient with ATRT (P4551_227N, already discussed above), a novel stop gain mutation in TSC2 in a patient affected by subependymal giant cell astrocytoma (P1315_102N), a novel frameshift mutation in KDM4C accompanied by a somatic exon loss mutation in a child with MB group 3 (P2233_124N), and a DICER1 nonsense p.Arg509Ter, rs886037672 mutation in a patient with pineoblastoma (P2233_131N). The gene discussed is TSC2; the disease is pineoblastoma.