Variant NM_000492.4:c.171G>A


Variant details:
Name NM_000492.4:c.171G>A
Protein name NP_000483.3:p.(Trp57*)
Genomic name (hg19) chr7:g.117149094G>A    UCSC    gnomAD
#Exon/intron exon 3
Legacy Name W57X(TGA)
Class disease-causing
Subclass CF-causing
WT sequence ACTTTTTATTCTTTTGCAGAGAATG G GATAGAGAGCTGGCTTCAAAGAAAA
Mutant sequence ACTTTTTATTCTTTTGCAGAGAATG A GATAGAGAGCTGGCTTCAAAGAAAA






External sources:
dbSNP
rs121909025
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 3
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1789heterozygoteCF-causing- Undef
CF 1842heterozygoteCF-causing- Undef
CF 2999heterozygoteCF-causing - Trans
Pending (NBS) 5948heterozygoteCF-causing - Trans


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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