Variant NM_000492.4:c.868C>T


Variant details:
Name NM_000492.4:c.868C>T
Protein name NP_000483.3:p.(Gln290*)
Genomic name (hg19) chr7:g.117176726C>T    UCSC    gnomAD
#Exon/intron exon 7
Legacy Name Q290X
Class disease-causing
Subclass CF-causing
WT sequence GGAAAAAATGATTGAAAACTTAAGA C AGTAAGTTGTTCCAATAATTTCAAT
Mutant sequence GGAAAAAATGATTGAAAACTTAAGA T AGTAAGTTGTTCCAATAATTTCAAT






External sources:
dbSNP
rs397508808
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CF 2
CFTR-RD2
  • Pancreatitis  2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pancreatitis 5396heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Pancreatitis 3259heterozygotevarying clinical consequence- Undef
CF 4925heterozygoteCF-causing - Trans
CF 3973heterozygoteCF-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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