Variant NM_000492.4:c.3276C>A


Variant details:
Name NM_000492.4:c.3276C>A
Protein name NP_000483.3:p.(Tyr1092*)
Genomic name (hg19) chr7:g.117251771C>A    UCSC    gnomAD
#Exon/intron exon 20
Legacy Name Y1092X(C>A)
Class disease-causing
Subclass CF-causing
WT sequence TACATACTGCCAACTGGTTCTTGTA C CTGTCAACACTGCGCTGGTTCCAAA
Mutant sequence TACATACTGCCAACTGGTTCTTGTA A CTGTCAACACTGCGCTGGTTCCAAA






External sources:
dbSNP
rs121908761
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 30
CF 22
CFTR-RD8
  • Bronchiectasis  2
  • CBAVD  3
  • CRS-NP  1
  • Other  2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 39heterozygoteCF-causing - Trans
CF 1191heterozygoteCF-causing - Trans
CF 4872heterozygoteCF-causing- Undef
CF 2380heterozygoteCF-causing- Undef
CF 2472heterozygoteCF-causing- Undef
CF 3747heterozygoteCF-causing- Undef
CF 3770heterozygoteCF-causing- Undef
CF 3887heterozygoteCF-causing- Undef
CF 4287heterozygote
CF 4406heterozygoteVUS2- Undef
CF-causing- Undef
CF 4432heterozygoteCF-causing - Trans
CF 146heterozygoteCF-causing - Trans
CF 147heterozygoteCF-causing - Trans
CF 202heterozygoteCF-causing- Undef
VUS1- Undef
CF 223heterozygoteCF-causing - Trans
CF 328heterozygoteCF-causing- Undef
CF 472heterozygoteCF-causing - Trans
CF 668heterozygoteCF-causing - Trans
CF 714heterozygoteCF-causing - Trans
CF 795heterozygoteCF-causing - Trans
CF 4473heterozygoteCF-causing - Trans
CF 4173homozygotec.3276C>A - p.(Tyr1092*) - Trans
CBAVD 4309heterozygoteVUS4- Undef
CBAVD 4707heterozygotevarying clinical consequence- Undef
CBAVD 417heterozygotevarying clinical consequence - Trans
Bronchiectasis 5030heterozygoteCF-causing- Undef
Bronchiectasis 950heterozygoteCFTR-RD-causing- Undef
CRS-NP 4768heterozygoteCF-causing - Trans
Other 1158heterozygoteCFTR-RD-causing- Undef
Other 4798heterozygotevarying clinical consequence- 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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