Variant NM_000492.4:c.3067_3072del


Variant details:
Name NM_000492.4:c.3067_3072del
Protein name NP_000483.3:p.(Ile1023_Val1024del)
Genomic name (hg19) chr7:g.117250651_117250656del    UCSC    
#Exon/intron exon 19
Legacy Name 3199del6 ; 3195del6
Class disease-causing
Subclass CF-causing
complex allele in 30.77% of patients associated with
  • c.443T>C - p.(Ile148Thr) : 100.00%
    • WT sequence CATCTTTGTTGCAACAGTGCCAGTG ATAGTG GCTTTTATTATGTTGAGAGCATATT
    Mutant sequence CATCTTTGTTGCAACAGTGCCAGTG ------ GCTTTTATTATGTTGAGAGCATATT

    Other databases:
    828
    430
    		 dbSNP
    rs121908767







    Pathogenicity predictors:

    Not found





    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 13
    Asymptomatic compound heterozygote 1
    CF 9
    CFTR-RD2
    • Bronchiectasis  1
    • CRS-NP  1
    Pending 1




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

    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CF 293heterozygoteCF-causing - Trans
    CF 2789heterozygoteCF-causing - Trans
    CF 2177heterozygoteCF-causing- Undef
    CF 5366heterozygoteCF-causing- Undef
    CF 5026heterozygoteCFTR-RD-causing - Trans
    CF 1553heterozygoteCF-causing - Trans
    CF 4854heterozygoteCF-causing - Trans
    CF 360heterozygoteCF-causing - Trans
    CF 4465heterozygoteCF-causing - Trans
    Bronchiectasis 5062heterozygotevarying clinical consequence- Undef
    Pending 3073heterozygoteCFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    CRS-NP 3143heterozygoteCFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 3156heterozygoteCFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    CFTR-RD-causing - Trans


    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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