Variant NM_000492.4:c.[165-291_1585-8528delins39;2619+2288_2989-839delins16]


Variant details:
Name NM_000492.4:c.[165-291_1585-8528delins39;2619+2288_2989-839delins16]
Protein name NP_000483.3:p.?
Genomic name (hg19) chr7:g.[117148797_117219265delins39;117237400_117249734delins16]    UCSC    
#Exon/intron intron 2
Legacy Name CFTRdele3-10,14b-16
Class disease-causing
Subclass CF-causing
complex allele in 42.86% of patients associated with
  • c.2260G>A - p.(Val754Met) : 100.00%
    • WT sequence CATTCGTAAAAGCCTTACTTTATTT GTCCAC [70457bp] AAGTAT ATAAAATAAGATCTGGATGAATAGA; CACTGCAAGGGTCCTTGGCTTCATT CTCGAA [12323bp] GAATCA AAAGACTCCAAGACGAATGCCCAGC
    Mutant sequence CATTCGTAAAAGCCTTACTTTATTT 39--------------------- ATAAAATAAGATCTGGATGAATAGA; CACTGCAAGGGTCCTTGGCTTCATT 16--------------------- AAAGACTCCAAGACGAATGCCCAGC







    External sources:
    dbSNP
    no rs
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 7
    CF 5
    CFTR-RD2
    • CBAVD  2



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CF 5811heterozygoteCF-causing- Undef
    CF 1289heterozygoteCF-causing- Undef
    CF 2029heterozygoteCF-causing - Trans
    CF 2096heterozygoteCF-causing - Trans
    CF 2036homozygotec.[165-291_1585-8528delins39;2619+2288_2989-839delins16] - p.? - Trans
    CBAVD 1296heterozygoteCFTR-RD-causing - Trans
    VUS1- Undef
    CBAVD 5442heterozygoteCFTR-RD-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.



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