Translocational renal cell carcinoma (t(6;11)(p21;q12) with transcription factor EB (TFEB) amplification and an integrated precision approach: a case report

Lilleby, Wolfgang; Vlatkovic, Ljiljana; Meza-Zepeda, Leonardo A.; Revheim, Mona-Elisabeth; Hovig, Eivind

doi:10.1186/s13256-015-0749-7

Journal of Medical Case Reports

Table 1 Somatic mutations detected in tumor

From: Translocational renal cell carcinoma (t(6;11)(p21;q12) with transcription factor EB (TFEB) amplification and an integrated precision approach: a case report

Variant ID	Vartype	Gene	Consequence	Coding change	Depth tumor	AF tumor	Depth normal
chr1_200567369_G_A	snv	KIF14	missense_variant	p.H849Y	225	0.227	99
chr1_235909689_G_GCC	INdel	LYST	frameshift_variant&feature_elongation	p.A2640fs	575	0.177	255
chr1_43239249_C_T	snv	C1orf50	stop_gained	p.R71X	330	0.352	296
chr10_124897147_G_T	snv	HMX3	missense_variant	p.G325V	252	0.286	189
chr10_48388199_C_T	snv	RBP3	missense_variant	p.M893I	253	0.229	149
chr12_31238059_A_G	snv	DDX11	missense_variant	p.R213G	32	0.188	16
chr14_57858330_G_A	snv	NAA30	missense_variant	p.E219K	165	0.212	94
chr14_57858331_A_T	snv	NAA30	missense_variant	p.E219V	165	0.218	94
chr17_28887148_T_A	snv	TBC1D29	missense_variant	p.L9Q	140	0.05	89
chr17_7256853_G_A	snv	KCTD11	missense_variant	p.E198K	167	0.192	132
chr18_14542791_C_T	snv	POTEC	missense_variant	p.A119T	84	0.083	47
chr19_35842950_G_A	snv	FFAR1	missense_variant	p.G166S	564	0.278	358
chr2_202492837_T_A	snv	TMEM237	missense_variant	p.N302I	191	0.215	90
chr20_23065590_C_G	snv	CD93	missense_variant	p.G414R	410	0.21	230
chr21_45535623_C_A	snv	PWP2	missense_variant	p.P220T	130	0.208	96
chr3_108348015_A_G	snv	DZIP3	missense_variant	p.T230A	114	0.272	45
chr4_110885598_C_T	snv	EGF	stop_gained	p.R494X	402	0.274	260
chr4_155298451_T_A	snv	DCHS2	missense_variant	p.E127V	225	0.164	113
chr5_178771091_C_A	snv	ADAMTS2	missense_variant	p.V71L	333	0.258	194
chr5_65105904_TC_T	inDEL	NLN	frameshift_variant&feature_truncation	p.Q586fs	333	0.168	200
chr6_136589425_G_T	snv	BCLAF1	missense_variant	p.P758T	123	0.089	35
chr6_33406615_C_G	snv	SYNGAP1	missense_variant	p.T532R	345	0.22	241
chr6_91271355_C_A	snv	MAP3K7	missense_variant	p.G110V	558	0.246	305
chr7_143096972_G_T	snv	EPHA1	missense_variant	p.R203S	222	0.212	153
chr9_139571036_C_T	snv	AGPAT2	splice_donor_variant	exon5:c.588 + 1G > A	83	0.337	103

snv single nucleotide variant; INdel insertion of the deletion of the bases

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ISSN: 1752-1947

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