Variant NM_000492.4:c.2260G>A


Variant details:
Name NM_000492.4:c.2260G>A
Protein name NP_000483.3:p.(Val754Met)
Genomic name (hg19) chr7:g.117232481G>A    UCSC    
#Exon/intron exon 14
Legacy Name V754M
Class non disease-causing
complex allele in 20.00% of patients associated with
  • c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] - p.? : 100.00%
    • WT sequence AGAGGCGATACTGCCTCGCATCAGC G TGATCAGCACTGGCCCCACGCTTCA
    Mutant sequence AGAGGCGATACTGCCTCGCATCAGC A TGATCAGCACTGGCCCCACGCTTCA

    Other databases:
    dbSNP
    rs150157202



    Pathogenicity predictors:

    Functional studies:


    Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
    Sosnay et al, 2013 23974870 ✓ ✓
    Bergougnoux et al, 2015 25797027 ✓ ✓


    « ✓ » indicates the type of analysis performed and not the results




    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 15
    Asymptomatic compound heterozygote 2
    CF 3
    CFTR-RD9
    • Bronchiectasis  5
    • CBAVD  1
    • Other  1
    • Pancreatitis  2
    Pending 1




    Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



    Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   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.



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