Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population

Table 2 The bioinformatics analysis of exonic and splicing variants detected in 142 patients with AZ

Rs	Variant^a	Consequence	In silico predictive algorithm					MAF in the databases
			SIFT	PolyPhen-2	Mutation Taster	MaxEntScan	Human Splicing Finder	1000 Genomes_EAS	gnomAD_EAS
rs1062348	c.846C > T	Synonymous	/	/	/	/	/	0.497	0.499
rs116422109	c.537 T > C	Synonymous	/	/	/	NSI	SSC	0.005	0.005
rs202057136	c.592-9A > G	Splicing	/	/	/	SSC (−0.12)	NSI	0.001	0.002
rs115302634	c.1796A > G	Missense	Tolerated (0.127)	Probably damaging (0.994)	Disease causing(0.99)	/	/	0.003	0.004
rs201820448	c.1458 T > C	Synonymous	/	/	/	NSI	NSI	0.004	0.004
rs188183810	c.1077C > T	Synonymous	/	/	/	SSC (−0.04)	SSC	0.005	NA

The exons and their splice sites of bromodomain containing 7(BRD7) were amplified by PCR and products were detected using Sanger sequencing
AZ azoospermia, MAF Minor allele frequency, gnomAD Genome Aggregation Database, EAS East Asia, NSI No significant impact, SSC Splice site changes. ^aThe variants were identified in the heterozygous state in patients with AZ

ISSN: 2051-4190