Rapid detection of SMARCB1 sequence variation using high resolution melting

BMC Cancer

Table 3 Summary of pathogenic mutations identified in rhabdoid tumors

Tumor	Exon	Mutation relative to ATG codon	Prediction	SMARCB Protein	Site	22qLOH
1877	Exon 2	c118C>T	pARG40STOP	Absent	Abdominal	Yes
1918		None		Faint	Choroid plexus	Yes
1938	Exon 9	c1144delG	Frame shift	Absent	CNS	Yes
1993	Exon 3	c325insG	Frame shift	Absent	CNS	ND
3022		None		Present	Renal	Yes
3074		Deletion of gene	Absent	Absent	CNS	Yes
3161	Exon 5	c601C>T	pARG201STOP	Absent	CNS	No
	Exon 6	c795+2delinsATGA	Splice donor site disrupted
3180	Exon 2	c157C>T	pARG53STOP	Absent	CNS	No
	Exon 5	c569-570ins18	Frame shift
3349		Deletion of gene	Absent	Absent	Liver	No
3331	Exon 7	c933_934insAT	Frame shift	Absent	CNS	Yes
3388	Exon 9	c1148delC	Frame shift	Absent	CNS	ND
3641	Exon 2	c157C>T	pARG53STOP	Absent	CNS	ND
3803	Exon 2	c118C>T	pARG40STOP	Absent	CNS	ND

ISSN: 1471-2407