Variant NM_000492.4:c.4300_4301dup


Variant details:
Name NM_000492.4:c.4300_4301dup
Protein name NP_000483.3:p.(Ser1435Glyfs*14)
Genomic name (hg19) chr7:g.117307019_117307020dup    UCSC    
#Exon/intron exon 27
Legacy Name 4428insGA
Class disease-causing
Subclass varying clinical consequence
WT sequence CCATCCAGAAACTGCTGAACGAGAG -- GAGCCTCTTCCGGCAAGCCATCAGC
Mutant sequence CCATCCAGAAACTGCTGAACGAGAG AG GAGCCTCTTCCGGCAAGCCATCAGC






External sources:
dbSNP
rs397508709
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CF 3
CFTR-RD1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 5186heterozygoteCF-causing - Trans
VUS3- Undef
CF 4486heterozygoteCF-causing - Trans
CF 4489heterozygoteCF-causing - Trans
Other 4546heterozygoteCF-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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