Variant NM_000492.4:c.2052dup


Variant details:
Name NM_000492.4:c.2052dup
Protein name NP_000483.3:p.(Gln685Thrfs*4)
Genomic name (hg19) chr7:g.117232273dup    UCSC    
#Exon/intron exon 14
Legacy Name 2184insA
Class disease-causing
Subclass CF-causing
WT sequence TGTCTCCTGGACAGAAACAAAAAAA - CAATCTTTTAAACAGACTGGAGAGT
Mutant sequence TGTCTCCTGGACAGAAACAAAAAAA A CAATCTTTTAAACAGACTGGAGAGT






External sources:
dbSNP
rs121908786
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 19
CF 18
Fetal bowel anomalies 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4723heterozygoteCF-causing- Undef
CF 4018heterozygoteCF-causing- Undef
CF 3439heterozygoteCF-causing- Undef
CF 2515heterozygoteCF-causing- Undef
CF 2178heterozygoteCF-causing- Undef
CF 2129heterozygoteCF-causing- Undef
CF 1863heterozygoteCF-causing- Undef
VUS1- Undef
CF 5107heterozygoteCF-causing - Trans
CF 1266heterozygoteCF-causing - Trans
CF 1173heterozygoteCF-causing - Trans
CF 1171heterozygotevarying clinical consequence - Trans
CF 1170heterozygoteCF-causing - Trans
CF 1125heterozygoteCF-causing - Trans
CF 878heterozygoteCF-causing - Trans
CF 666heterozygoteVUS3 - Cis
CF-causing - Trans
CF 359heterozygoteCF-causing - Trans
VUS1 - Trans
CF 266heterozygoteCF-causing - Trans
CF 4105heterozygoteCF-causing- Undef
Fetal bowel anomalies 375heterozygoteCF-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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