Variant NM_000492.4:c.3605del


Variant details:
Name NM_000492.4:c.3605del
Protein name NP_000483.3:p.(Asp1202Alafs*9)
Genomic name (hg19) chr7:g.117267712del    UCSC    
#Exon/intron exon 22
Legacy Name 3737delA
Class disease-causing
Subclass CF-causing
WT sequence GAGAATTCACACGTGAAGAAAGATG A CATCTGGCCCTCAGGGGGCCAAATG
Mutant sequence GAGAATTCACACGTGAAGAAAGATG - CATCTGGCCCTCAGGGGGCCAAATG






External sources:
dbSNP
rs397508587
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 9
CF 6
CFTR-RD3
  • CBAVD  3



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 157heterozygoteCF-causing - Trans
CF 231heterozygoteCF-causing - Trans
CF 472heterozygoteCF-causing - Trans
CF 5534heterozygoteCF-causing - Trans
CF 1762heterozygoteCF-causing- Undef
CF 4609heterozygoteCF-causing - Trans
CBAVD 449heterozygoteCFTR-RD-causing - Trans
CBAVD 4551heterozygotevarying clinical consequence - Trans
CBAVD 4574heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef


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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