Variant NM_000492.4:c.4251del


Variant details:
Name NM_000492.4:c.4251del
Protein name NP_000483.3:p.(Glu1418Argfs*14)
Genomic name (hg19) chr7:g.117306970del    UCSC    
#Exon/intron exon 27
Legacy Name 4382delA
Class disease-causing
Subclass CF-causing
WT sequence AACAGCCATTTCCCTAGGTCATAGA A GAGAACAAAGTGCGGCAGTACGATT
Mutant sequence AACAGCCATTTCCCTAGGTCATAGA - GAGAACAAAGTGCGGCAGTACGATT






External sources:
dbSNP
rs397508706
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
CF 6



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 165heterozygoteCF-causing - Trans
CF 1825heterozygoteCF-causing- Undef
CF 1991heterozygoteCF-causing- Undef
CF 2384heterozygoteCF-causing- Undef
CF 2429heterozygoteCF-causing- Undef
CF 3152heterozygoteCF-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.



Go to CFTRare