Variant NM_000492.4:c.2173G>A


Variant details:
Name NM_000492.4:c.2173G>A
Protein name NP_000483.3:p.(Glu725Lys)
Genomic name (hg19) chr7:g.117232394G>A    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name E725K
Class VUS
Subclass non-CF
complex allele in 25.00% of patients associated with
  • c.1766+5G>A - p.(=) : 100.00%
    • WT sequence GACTCCCTTACAAATGAATGGCATC G AAGAGGATTCTGATGAGCCTTTAGA
    Mutant sequence GACTCCCTTACAAATGAATGGCATC A AAGAGGATTCTGATGAGCCTTTAGA


    External sources:

    Not found    		dbSNP
    rs199791061






    Pathogenicity predictions:
    AGVGD MAPP SIFT PPH2
    C0 0.0004 0.03 0.96
    VUS1 VUS5 VUS5 VUS5

    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




    No patient found in CFTR-NGS catalogue


    4 patients carrying this variant are reported in CFTR-France:

    TOTAL NUMBER OF PATIENTS 4
    Asymptomatic compound heterozygote 1
    CF 1
    CFTR-RD1
    • Other  1
    Pending (NBS) 1



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    Asymptomatic compound heterozygote 4843heterozygoteCFTR-RD-causing - Trans
    CF 297heterozygoteCF-causing - Cis
    CF-causing - Trans
    Pending (NBS) 5802heterozygoteCF-causing - Trans
    Other 4338heterozygoteCF-causing - Trans


    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



                CFTR variants are clustered into five groups:
    • CF-causing: when in trans with another CF-causing mutation, will result in CF.
    • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
    • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
    • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
    • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.