ClinVar

Description

The CFTR c.260T>C; p.Phe87Ser variant (rs1310658028), to our knowledge, is not reported in the medical literature but is reported in the cystic fibrosis mutation database (see link). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The phenylalanine at codon 87 is weakly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Additionally, other variants at this codon (c.259T>C; p.Phe87Leu, c.259T>A; p.Phe87Ile) have been reported in individuals with cystic fibrosis or congenital absence of vas deferens (Bienvenu 1994, Sharma 2009, see link to cystic fibrosis mutation database), but the p.Phe87Ile variant was shown in vitro to have no effect on protein function compared to wild type (Sharma 2015). Due to limited information, the clinical significance of the p.Phe87Ser variant is uncertain at this time. References: Link to cystic fibrosis mutation database: http://www.genet.sickkids.on.ca/ Bienvenu T et al. A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mutat. 1994;3(4):395-396. Sharma N et al. Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens. Hum Reprod. 2009;24(5):1229-1236. Sharma H et al. Function, pharmacological correction and maturation of new Indian CFTR gene mutations. J Cyst Fibros. 2015;14(1):34-41.