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    
Genomic name (hg38) chr7:g.117610597_117610602del    UCSC
#Exon/intron exon 19
Legacy Name 3199del6 ; 3195del6
Class disease-causing
Subclass CF-causing
complex allele in 28.57% 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



    Response to modulators:         +


    Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
    VNZ-TEZ-DIVA yesnoyesno

    clinical and functional data presented above are provided by Vertex


    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 14
    Asymptomatic compound heterozygote 1
    CF 10
    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 6275heterozygoteCF-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 3073heterozygoteVUS3 - Trans
    CRS-NP 3143heterozygoteVUS3 - Trans
    Asymptomatic compound heterozygote 3156heterozygoteVUS3 - Trans


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



                CFTR variants are clustered into five groups (click here for more details about the classification of variants):
    • 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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