Updates for c.2583del:
2023-02-02 name changed from c.2583delT to c.2583del




Variant NM_000492.4:c.2583del


Variant details:
Name NM_000492.4:c.2583del
Protein name NP_000483.3:p.(Phe861Leufs*3)
Genomic name (hg19)     chr7:g.117235076del    UCSC    
Genomic name (hg38) chr7:g.117595022del    UCSC
#Exon/intron exon 15
Legacy Name 2711delT
Class disease-causing
Subclass CF-causing
WT sequence TTACTGTCCACAAGAGCTTAATTTT T GTGCTAATTTGGTGCTTAGTAATTT
Mutant sequence TTACTGTCCACAAGAGCTTAATTTT - GTGCTAATTTGGTGCTTAGTAATTT

Other databases:
dbSNP
rs397508399







Pathogenicity predictors:

Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 13
CF 12
Pending 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 166heterozygoteCF-causing- Undef
CF 6083heterozygoteCF-causing - Trans
CF 4383heterozygoteCF-causing - Trans
CF 4804heterozygoteCF-causing- Undef
CF 4222heterozygoteCF-causing - Trans
CF 3188heterozygoteCF-causing - Trans
CF 2499heterozygoteCF-causing- Undef
CF 1011heterozygoteCF-causing - Trans
CF 348heterozygoteCF-causing - Trans
CF 6478heterozygoteCF-causing - Trans
CF 5712homozygotec.2583del - p.(Phe861Leufs*3) - Trans
CF 179homozygotec.2583del - p.(Phe861Leufs*3) - Trans
Pending 6309heterozygotevarying clinical consequence - 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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