Identification of 3 novel VHL germ-line mutations in Danish VHL patients

BMC Medical Genetics

Table 2 VHL mutations identified in Danish patients with VHL suspected disease

Family ID	Exon	Nucleotide	Protein	In silico	Interpretation	References
04012		c.1-?_340 + ?del			Pathogenic	[14, 15]
04013
04231
00117		c.1-?_463 + ?del			Pathogenic	[14]
04178
00108	1	c.194 C > T	p.Ser65Leu	C65	Pathogenic	[14, 16]
00118	1	c.194 C > G	p.Ser65Trp	C65	Pathogenic	[14–17]
04025
00116	1	c.239 G > T	p.Ser80Ile	C15	Pathogenic	[14–19]
04268	1	c.257 C > T	p.Pro86Leu	C0	Pathogenic	[15–17]
00101	1	c.278 G > A	p.Gly93Asp	C0	Pathogenic	[14, 16]
00113	1	c.293A > G	p.Tyr98Cys	C65	Pathogenic	[15, 20]
00107	1	c.319 C > T	p.Arg107Cys	C25	Pathogenic	Novel
00109	1	c.337 C > T	p.Arg113X		Pathogenic	[21]
04283		c.340 + 5 G > C			Polymorphism	[17, 22, 23]
00121	1	c.342_343dupGGT	p.Gly114_His115insGly		Unknown	Novel
00103		c.341-?_463 + ?del			Pathogenic	[14, 18]
00105
04208
04078
00107	2	c.353 T > C	p.Leu118Pro	C25	Pathogenic	[16, 17, 24]
00102	2	c.407 T > C	p.Phe136Ser	C55	Pathogenic	[16, 17]
00104	2	c.433 C > T	p.Gln145X		Pathogenic	[17]
04008		c.463 + 1 G > T			Pathogenic	[16, 18]
04030		c.463 + 8 C > T			Unknown	[25]
04163
04135		c.464-?_642 + ?del			Pathogenic	[14, 15]
04168
04181
04237
00121	3	c.481 C > T	p.Arg161X		Pathogenic	[14, 16, 18, 22]
04015	3	c.488 T > A	p.Leu163His	C0	Pathogenic	[22]
00123	3	c.496 G > T	p.Val166Phe	C0	Pathogenic	[14, 16, 17]
00106	3	c.499 C > T	p.Arg167Trp	C65	Pathogenic	[16–18, 24]
00112	3	c.520_521dupAA	p.Asn174LysfsX29		Pathogenic	Novel
04026	3	c.548 C > A	p.Ser183X		Pathogenic	[14, 16]
04024	3	c.606dupA	p.Gln203ThrfsX53		Pathogenic	[17]

In silico predictions was performed using the web-based program Align GVGD and grades above 25 was considered likely deleterious.

ISSN: 1471-2350