Variant NM_000492.4:c.53+3158A>G


Variant details:
Name NM_000492.4:c.53+3158A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117123359A>G    UCSC    gnomAD
#Exon/intron intron 1
Class non disease-causing
WT sequence CTAAATAATACATAAATTTCTTCTC A TAAGTATATATTAGCCACATTATTT
Mutant sequence CTAAATAATACATAAATTTCTTCTC G TAAGTATATATTAGCCACATTATTT






External sources:

Not found
Not found		dbSNP
no rs
Not found


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Bergougnoux et al, 2018 30389601 ✓


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





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


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

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



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 829heterozygotevarying clinical consequence - Cis
VUS3 - Cis
CF-causing - Trans
CF 5469heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 4965heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 4964heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
Other 4963heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- 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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