Variant NM_000492.4:c.2353C>T


Variant details:
Name NM_000492.4:c.2353C>T
Protein name NP_000483.3:p.(Arg785*)
Genomic name (hg19) chr7:g.117232574C>T    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name R785X
Class disease-causing
Subclass CF-causing
WT sequence AGTTAACCAAGGTCAGAACATTCAC C GAAAGACAACAGCATCCACACGAAA
Mutant sequence AGTTAACCAAGGTCAGAACATTCAC T GAAAGACAACAGCATCCACACGAAA






External sources:
dbSNP
rs374946172
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 4
CFTR-RD1
  • CBAVD  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1256heterozygoteCFTR-RD-causing- Undef
VUS1- Undef
CF 1304heterozygoteCF-causing- Undef
CF 4934heterozygoteCF-causing - Trans
CF 3119heterozygoteVUS1 - Cis
CF-causing - Trans
CF 5061homozygotec.2353C>T - p.(Arg785*) - 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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