In silico prediction of HBD gene variants in the Iranian population

Egyptian Journal of Medical Human Genetics

Table 2 In silico prediction of intronic variants observed in the HBD gene in the Iranian population, based on the Iranome project (http://www.iranome.ir/)

	c.316-76T>C	c.315+55G>T	c.93-34C>T	c.92+43A>G	c.316-80G>A	c.316-102A>G	c.315+199A>G	c.315+146T>G	c.316-32T>C
Mutation Taster	P	P	P	P	P	P	P	P	P
FATHMM-XF	Benign	Benign	Benign	Benign	Benign	Benign	Benign	Benign	Benign
CADD	8.948	0.201	2.825	5.735	5.194	1.516	3.008	3.105	6.307
VarSEAK	No splicing effect	No splicing effect	No splicing effect	No splicing effect	No splicing effect	No splicing effect	No splicing effect	No splicing effect	No splicing effect
MaxEntScan	No change	No change	No change	No change	No change	No change	No change	No change	No change
NetGene2	No change	No change	No change	No change	No change	No change	No change	No change	No change
NNSplice	No change	No change	No change	No change	No change	No change	No change	No change	No change
PhD-SNPg	Benign	Benign	Benign	Benign	Benign	Benign	Pathogenic	Benign	Benign
Frequency in 1000 genomes Project	0.001	NA	0.0002	NA	0.0002	0.014	0.002	0.06	0.019
Frequency in gnomAD	0.00006	NA	0.000008	NA	NA	0.013	0.003	0.055	0.018
ACMG	VUS	VUS	VUS	VUS	VUS	Likely benign	Likely benign	Benign	Benign