Variant NM_000492.4:c.4242+13A>G


Variant details:
Name NM_000492.4:c.4242+13A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117305631A>G    UCSC    gnomAD
#Exon/intron intron 26
Legacy Name 4374+13A/G
Class non disease-causing
WT sequence CCAACAATTTTTGGTGAGTCTTTAT A ACTTTACTTAAGATCTCATTGCCCT
Mutant sequence CCAACAATTTTTGGTGAGTCTTTAT G ACTTTACTTAAGATCTCATTGCCCT






External sources:

Not found		dbSNP
rs76179227
Not found


Functional studies:


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


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





1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 8
CF 4
CFTR-RD4
  • Bronchiectasis  1
  • CBAVD  2
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 319heterozygoteCF-causing - Cis
CF-causing - Trans
CF 2442heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3005heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4298heterozygoteCF-causing- Undef
CF-causing- Undef
CBAVD 931heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2437heterozygoteVUS3- Undef
CF-causing- Undef
Bronchiectasis 2415heterozygoteCF-causing- Undef
Pancreatitis 2432heterozygoteVUS3- 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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