Clinical and genetic analyses of patients with lateralized overgrowth

BMC Medical Genomics

Table 3 In silico identification of mutations in patients

Patient	Mutated gene	DNA sequence change	SIFT	Mutation taster	LRT	PROVEAN	CADD phred score	Predicted pathogenicity^*
1	PIK3CA	c.1636C > A	Tolerated	Disease causing	Deleterious	Neutral	25.2	Pathogenic
2	PIK3CA	c.2740G > A	Deleterious	Disease causing	Deleterious	Deleterious	31	Pathogenic
3	PIK3CA	c.1345C > A	Deleterious	Disease causing	Deleterious	Deleterious	28.4	Likely pathogenic
4	PIK3CA	c.1633G > A	Deleterious	Disease causing	Deleterious	Deleterious	33	Pathogenic
5	PIK3CA	c.1357G > A	Tolerated	Disease causing	Deleterious	Neutral	32	Likely pathogenic
6	PIK3CA	c.3073A > G	Tolerated	Disease causing	Deleterious	Deleterious	23.2	Likely pathogenic
7	PIK3CA	c.2908G > A	Tolerated	Disease causing	Neutral	Neutral	22.8	Likely pathogenic
8	KRAS	c.35G > A	Deleterious	Disease causing	Deleterious	Deleterious	25.3	Pathogenic
9	KRAS	c.35G > A	Deleterious	Disease causing	Deleterious	Deleterious	25.3	Pathogenic
10	PTEN	c.755A > T	Deleterious	Disease causing	Deleterious	Deleterious	27.3	Likely pathogenic
11	MAP2K3	c.696 + 1G > A	–	Disease causing	–	–	26.8	VUS
12	GNAQ	c.548G > A	Deleterious	Disease causing	Deleterious	Deleterious	35	Pathogenic
13	TBC1D4	c.667G > A	Deleterious	Disease causing	Deleterious	Deleterious	34	VUS
14	TEK	c.3324_3334del	–		–	–	–	Pathogenic

SIFT, Sorting Intolerant For Tolerant; LRT, Likelihood Ratio Test; PROVEAN, Protein Variation Effect Analyzer; CADD, Combined Annotation Dependent Depletion; VUS, variant of unknown significance;*, As presented in the consensus statement of the ACMG (American College of Medical Genetics)

ISSN: 1755-8794