ClinVar

Description

The CFTR c.2490+1G>A variant (rs141158996), also known as 2622+1G>A, has been identified in many individuals affected with pancreatic insufficient forms of cystic fibrosis (see link for CFTR2 database, Audrezet 1993, Dorfman 2010, Krenkova 2013, Scotet 2003, Sosnay 2013) and at least one individual with congenital bilateral absence of the vas deferens (De Braekeleer 1996). It is also reported as pathogenic in ClinVar (Variation ID: 7175). This variant abolishes the splice donor site of intron 13 and is predicted to alter splicing (Alamut v.2.11). Based on available information, this variant is considered pathogenic. References: Link to CFTR2 database: https://cftr2.org/ Audrezet M et al. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet. 1993 Jan;2(1):51-4. De Braekeleer M et al. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 1996 Sep;2(9):669-77. Dorfman R et al. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Clin Genet. 2010 May;77(5):464-73. Krenkova P et al. Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. J Cyst Fibros. 2013 Sep;12(5):532-7. Scotet V et al. Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. Hum Mutat. 2003 Jul;22(1):105. Sosnay P et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160-7.