Updates for c.54-5940_273+10250del:
2023-02-02 name changed from c.54-5940_273+10250del to c.54-5940_273+10250del




Variant NM_000492.4:c.54-5940_273+10250del


Variant details:
Name NM_000492.4:c.54-5940_273+10250del
Protein name NP_000483.3:p.(Ser18Argfs*16)
Genomic name (hg19)     chr7:g.117138367_117159446del    UCSC    
Genomic name (hg38) chr7:g.117498313_117519392del    UCSC
#Exon/intron intron 1
Legacy Name CFTRdele2,3 ; Del exon 2-3
Class disease-causing
Subclass CF-causing
WT sequence TCAAATATACACAAGGCTTGTCTTT AGCGAG [21068bp] CACTTT TACCCTGCCAAAAGCAAAATCTTAA
Mutant sequence TCAAATATACACAAGGCTTGTCTTT ----------------------- TACCCTGCCAAAAGCAAAATCTTAA

Other databases:
687
1460
 dbSNP
no rs








Pathogenicity predictors:

Not found
Not found




Response to modulators:         +


Reference PMID Modulator in vitro / ex vivo data Clinical data Variant responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yesno

variant non responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n>3 for 6-8 weeks)


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 11
CF 8
CFTR-RD3
  • CBAVD  2
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 193heterozygoteCF-causing - Trans
CF 4269heterozygoteCF-causing - Trans
CF 3215heterozygoteCF-causing- Undef
CF 1943heterozygoteCF-causing - Trans
CF 1164heterozygoteCF-causing - Trans
CF 576heterozygoteCF-causing - Trans
CF 210heterozygoteCF-causing- Undef
CF 6169heterozygoteCF-causing - Trans
CBAVD 5172heterozygoteCFTR-RD-causing- Undef
CBAVD 4994heterozygoteCFTR-RD-causing- Undef
Pancreatitis 1950heterozygoteVUS2 - 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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