Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Table 3 Pathogenicity prediction of five variants using bioinformatics tools

Family (proband)	Gene	Transcript	Nucleotide change	Amino acid change	SIFT	Polyphen2	MutationTaster	M-CAP	PROVEAN	Pathogenicity (ACMG)	Evidence (ACMG)
Family 1 (II:1)	GJA8	NM_005267.4	c.154 T > C	p.F52 L	Deleterious	Possibly damaging	Disease causing	Possibly Pathogenic	Deleterious	Likely Pathogenic	PM1 PM2 PP3 PP4
Family 1 (II:1)	GJA8	NM_005267.4	c.154 T > C	p.F52 L	0.00	0.478	–	0.513	−5.81	–	–
Family 2 (II:1)	GJA3	NM_021954.3	c.1152_1153insG	p.S385Efs*83	Not predicted	Not predicted	Disease causing	Not predicted	Not predicted	Pathogenic	PVS1 PP1 PP4 BP4
Family 3 (IV:1)	BFSP1	NM_001195.3	c.1804G > C	p.G602R	Deleterious	Possibly damaging	Polymorphism	Possibly Pathogenic	Neutral	Uncertain significance	PM2 PP1 PP4
Family 3 (IV:1)	BFSP1	NM_001195.3	c.1804G > C	p.G602R	0.02	0.472	–	0.308	−1.03	–	–
Family 4 (IV:1)	EPHA2	NM_004431.3	c.1532C > T	p.T511 M	Deleterious	Probably damaging	Disease causing	Possibly Pathogenic	Deleterious	Uncertain significance	PM1 PM2 PP1 PP3 PP4 BS1 BS2 BP6
Family 4 (IV:1)	EPHA2	NM_004431.3	c.1532C > T	p.T511 M	0.00	1.00	–	0.04	−4.80	–	–
Family 5 (IV:12)	HSF4	NM_001538.3	c. 356G > A	p. R119H	Deleterious	Probably damaging	Disease causing	Possibly Pathogenic	Deleterious	Pathogenic	PM1 PM2 PP1 PP2 PP3 PP4 BP1
Family 5 (IV:12)	HSF4	NM_001538.3	c. 356G > A	p. R119H	0.00	1.00	–	0.259	−4.81	–	–

ISSN: 1471-2350