Variant NM_000492.4:c.1753G>T


Variant details:
Name NM_000492.4:c.1753G>T
Protein name NP_000483.3:p.(Glu585*)
Genomic name (hg19) chr7:g.117230480G>T    UCSC    
#Exon/intron exon 13
Legacy Name E585X
Class disease-causing
Subclass CF-causing
WT sequence ATACCTAGATGTTTTAACAGAAAAA G AAATATTTGAAAGGTATGTTCTTTG
Mutant sequence ATACCTAGATGTTTTAACAGAAAAA T AAATATTTGAAAGGTATGTTCTTTG

Other databases:
dbSNP
rs397508296







Pathogenicity predictors:

Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
CF 12
CFTR-RD1
  • Other  1
Fetal bowel anomalies 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 2heterozygoteCF-causing - Trans
CF 4399heterozygoteCF-causing - Trans
CF 5328heterozygoteCF-causing- Undef
CF 2568heterozygoteCF-causing- Undef
CF 2247heterozygoteCF-causing- Undef
CF 5878heterozygoteCF-causing - Trans
CF 4985heterozygoteCF-causing- Undef
CF 1027heterozygoteCF-causing - Trans
CF 1008heterozygoteCF-causing - Trans
CF 361heterozygoteCF-causing - Trans
CF 335heterozygoteCF-causing- Undef
CF 4697heterozygoteCF-causing - Trans
Fetal bowel anomalies 760heterozygoteCF-causing - Trans
Other 4583heterozygotevarying clinical consequence- Undef


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