Variant NM_000492.4:c.2052del


Variant details:
Name NM_000492.4:c.2052del
Protein name NP_000483.3:p.(Lys684Asnfs*38)
Genomic name (hg19) chr7:g.117232273del    UCSC    
#Exon/intron exon 14
Legacy Name 2184delA
Class disease-causing
Subclass CF-causing
WT sequence CTGTCTCCTGGACAGAAACAAAAAA A CAATCTTTTAAACAGACTGGAGAGT
Mutant sequence CTGTCTCCTGGACAGAAACAAAAAA - CAATCTTTTAAACAGACTGGAGAGT






External sources:
dbSNP
rs121908746
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
CF 9
CFTR-RD4
  • Bronchiectasis  1
  • CBAVD  3
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4669heterozygoteCFTR-RD-causing - Trans
CBAVD 5966heterozygoteCFTR-RD-causing- Undef
CBAVD 3303heterozygoteCFTR-RD-causing- Undef
CF 3641heterozygoteCF-causing- Undef
CF 3502heterozygoteCF-causing- Undef
CF 5011heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3180heterozygoteCF-causing - Trans
CF 3142heterozygoteCF-causing - Trans
VUS3- Undef
CF 2947heterozygoteCF-causing - Trans
CF 2763heterozygoteCF-causing - Trans
CF 884heterozygoteCF-causing - Trans
CF 4040heterozygoteCF-causing- Undef
Pending (NBS) 5106heterozygotevarying clinical consequence - Trans
Bronchiectasis 5624heterozygoteVUS3 - 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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