Variant NM_000492.4:c.2476G>A


Variant details:
Name NM_000492.4:c.2476G>A
Protein name NP_000483.3:p.(Glu826Lys)
Genomic name (hg19)     chr7:g.117232697G>A    UCSC    
Genomic name (hg38) chr7:g.117592643G>A    UCSC
#Exon/intron exon 14
Legacy Name E826K
Class VUS
Subclass VUS
WT sequence CTTGGAAATAAGTGAAGAAATTAAC G AAGAAGACTTAAAGGTAGGTATACA
Mutant sequence CTTGGAAATAAGTGAAGAAATTAAC A AAGAAGACTTAAAGGTAGGTATACA

Other databases:

Not found		dbSNP
rs397508381



Pathogenicity predictors:

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Vankeerberghen et al, 1998 9736778 ✓ ✓


« ✓ » indicates the type of analysis performed and not the results



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1465heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans


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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