Updates for c.4251del:
2023-02-02 name changed from c.4251delA to c.4251del




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    
Genomic name (hg38) chr7:g.117666916del    UCSC
#Exon/intron exon 27
Legacy Name 4382delA
Class disease-causing
Subclass CF-causing
WT sequence AACAGCCATTTCCCTAGGTCATAGA A GAGAACAAAGTGCGGCAGTACGATT
Mutant sequence AACAGCCATTTCCCTAGGTCATAGA - GAGAACAAAGTGCGGCAGTACGATT

Other databases:
dbSNP
rs397508706







Pathogenicity predictors:

Not found




Response to modulators:         +


Reference PMID Modulator in vitro / ex vivo data Clinical data Variant responsiveness
Burgel et al., 2025 40932846 ELX-TEZ-IVAN.D. yes yes

variant responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n=1 patient for 6-8 weeks)


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 9
CF 9




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 165heterozygoteCF-causing - Trans
CF 6352heterozygoteCF-causing- Undef
CF 1825heterozygoteCF-causing- Undef
CF 1991heterozygoteCF-causing- Undef
CF 2384heterozygoteCF-causing- Undef
CF 2429heterozygoteCF-causing- Undef
CF 6538heterozygoteCF-causing- Undef
CF 3152heterozygoteCF-causing - Trans
CF 6087heterozygoteCF-causing- Undef


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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