Variant NM_000492.4:c.4272C>T


Variant details:
Name NM_000492.4:c.4272C>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117306991C>T    UCSC    gnomAD
#Exon/intron exon 27
Legacy Name Y1424Y (4404C/T)
Class non disease-causing
WT sequence TAGAAGAGAACAAAGTGCGGCAGTA C GATTCCATCCAGAAACTGCTGAACG
Mutant sequence TAGAAGAGAACAAAGTGCGGCAGTA T GATTCCATCCAGAAACTGCTGAACG






External sources:

Not found		dbSNP
rs1800135
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





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


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

TOTAL NUMBER OF PATIENTS 18
Asymptomatic compound heterozygote 1
CF 9
CFTR-RD8
  • Bronchiectasis  2
  • CBAVD  2
  • Other  1
  • Pancreatitis  3



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 146heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4290heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4765heterozygoteVUS3- Undef
varying clinical consequence- Undef
CF-causing- Undef
CF 2893heterozygoteCF-causing- Undef
CF-causing- Undef
VUS1- Undef
CF 1315heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1121heterozygoteCF-causing- Undef
CF-causing- Undef
CF 804heterozygoteCF-causing- Undef
CF-causing- Undef
CF 651heterozygoteCF-causing- Undef
CF-causing- Undef
CF 147heterozygoteCF-causing- Undef
CF-causing- Undef
CBAVD 4750heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 446heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 5187heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5619heterozygoteVUS3- Undef
Pancreatitis 2503heterozygoteCF-causing- Undef
Pancreatitis 2369heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4289heterozygoteCF-causing - Cis
VUS2 - Trans
Bronchiectasis 4295heterozygoteCF-causing- Undef
Bronchiectasis 4811heterozygoteCF-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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