Variant NM_000492.4:c.3139+42A>T


Variant details:
Name NM_000492.4:c.3139+42A>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117250765A>T    UCSC    gnomAD
#Exon/intron intron 19
Legacy Name 3271+42A/T
Class non disease-causing
WT sequence GCGATACTCATCTTGTAAAAAAGCT A TAAGAGCTATTTGAGATTCTTTATT
Mutant sequence GCGATACTCATCTTGTAAAAAAGCT T TAAGAGCTATTTGAGATTCTTTATT






External sources:

Not found		dbSNP
rs28517401
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


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

TOTAL NUMBER OF PATIENTS 12
CF 2
CFTR-RD8
  • CBAVD  3
  • Pancreatitis  5
Pending (NBS) 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4729heterozygoteVUS3- Undef
VUS5- Undef
CBAVD 5343heterozygoteVUS3- Undef
VUS3- Undef
CBAVD 927heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS4- Undef
Pancreatitis 5617heterozygoteVUS3- Undef
Pancreatitis 5611heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Pancreatitis 5165heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5974heterozygoteVUS3- Undef
Pancreatitis 669heterozygoteCF-causing- Undef
Pending (NBS) 5609heterozygoteVUS3- Undef
CF-causing- Undef
Pending (NBS) 1255heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 1528heterozygote
CF 5770heterozygoteVUS3- Undef
CF-causing- 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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