Variant NM_000492.4:c.3964-78_4242+577del


Variant details:
Name NM_000492.4:c.3964-78_4242+577del
Protein name NP_000483.3:p.(Gly1323_Val1415del)
Genomic name (hg19) chr7:g.117304664_117306195del    UCSC    
#Exon/intron intron 24
Legacy Name CFTRdele22,23 ; Del exon 22-23
Class disease-causing
Subclass CF-causing
WT sequence ATGAAAAACATAAGCTTTCAGAACT CCTGTG [1520bp] ATTACT TGAGGCCAGGAATTCAAGACCAGCC
Mutant sequence ATGAAAAACATAAGCTTTCAGAACT ---------------------- TGAGGCCAGGAATTCAAGACCAGCC







External sources:
1415
1458
 dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 2
CFTR-RD1
  • CBAVD  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1140heterozygoteCF-causing - Trans
CF 2602heterozygoteCF-causing- Undef
CBAVD 1476heterozygoteCFTR-RD-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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