In silico prediction analysis of CFTR: c.۱۳۷۵T>C (p.Ser۴۵۹Pro) variant

Cystic fibrosis (CF) has been known as a life-threatening disorder which affects multiple systems including lungs and digestive system. As a disorder withautosomal recessive (AR) inheritance, CF is caused by pathogenic variants in cystic fibrosis transmembrane conductance regulator (CFTR) gene [۱]. In this study, we aimed to investigate the deleterious effect of CFTR: c.۱۳۷۵T>C (p.Ser۴۵۹Pro) variant using ten in silico predictive tools. As shown in the table below, nine out of ten in silico tools predicted deleterious effects for this variant. CFTR: c.۱۳۷۵T>C (p.Ser۴۵۹Pro) variant has been detected recently by Iranomeproject (http://www.iranome.ir/) in a healthy individual with Azeri (Azari) ethnicity from Iran (in heterozygous form). To the best of our knowledge, there are no other reports of this variant in the literature scientific reports as well as in the LOVD, HGMD, dbSNP, ClinVar, gnomAD, ۱KGP, CFTR۱, andCFTR۲ public databases. In conclusion, with a threshold of deleterious effects in seven or more in silico predictive tools, CFTR: c.۱۳۷۵T>C (p.Ser۴۵۹Pro) variantcould be accepted as a pathogenic variant. However, for its final classification, it is necessary to consider the other criteria provided by American College of Medical Genetics and Genomics (ACMG-AMP) guidelines [۲].

کلیدواژه ها:

Cystic fibrosis (CF) ، CFTR gene ، In silico analysis