Updates for c.2620-26A>G:
2018-03-26 class changed from unclassified to non disease-causing




Variant NM_000492.4:c.2620-26A>G


Variant details:
Name NM_000492.4:c.2620-26A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117242854A>G    UCSC    
Genomic name (hg38) chr7:g.117602800A>G    UCSC
#Exon/intron intron 15
Legacy Name 2752-26A>G
Class non disease-causing
WT sequence AATAGGTGAAGATGTTAGAAAAAAA A TCAACTGTGTCTTGTTCCATTCCAG
Mutant sequence AATAGGTGAAGATGTTAGAAAAAAA G TCAACTGTGTCTTGTTCCATTCCAG

Other databases:
dbSNP
rs201716473







Pathogenicity predictors:

Not found

Functional studies:         +


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Giorgi et al, 2015 25781545 ✓
Bergougnoux et al, 2015 25797027 ✓


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



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
Asymptomatic compound heterozygote 3
CFTR-RD1
  • Other  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 4840heterozygoteVUS3- Undef
Asymptomatic compound heterozygote 2798heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 2929heterozygoteCF-causing - Trans
Other 3054heterozygotevarying clinical consequence - Trans


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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