Variant NM_000492.4:c.2538G>A


Variant details:
Name NM_000492.4:c.2538G>A
Protein name NP_000483.3:p.(Trp846*)
Genomic name (hg19) chr7:g.117235031G>A    UCSC    gnomAD
#Exon/intron exon 15
Legacy Name W846X (2670TGG>TGA)
Class disease-causing
Subclass CF-causing
WT sequence AGAGCATACCAGCAGTGACTACATG G AACACATACCTTCGATATATTACTG
Mutant sequence AGAGCATACCAGCAGTGACTACATG A AACACATACCTTCGATATATTACTG






External sources:
dbSNP
rs267606722
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 32
CF 26
CFTR-RD3
  • CBAVD  3
Pending (NBS) 3



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 319heterozygoteCF-causing - Trans
CF 3751heterozygoteCF-causing- Undef
CF 3784heterozygoteVUS3- Undef
CF 3951heterozygoteCF-causing- Undef
CF 3956heterozygoteCF-causing- Undef
CF 4026heterozygoteCF-causing - Trans
CF 4185heterozygoteCF-causing- Undef
CF 4298heterozygoteCF-causing- Undef
CF 4364heterozygoteCF-causing - Trans
CF 4365heterozygoteCF-causing - Trans
CF 4441heterozygoteCF-causing - Trans
CF 4442heterozygoteCF-causing - Trans
CF 3747heterozygoteCF-causing- Undef
CF 3725heterozygoteCF-causing - Trans
CF 611heterozygoteCF-causing - Trans
CF 1593heterozygoteCF-causing- Undef
CF 5888heterozygoteVUS3 - Trans
CF 2442heterozygoteCF-causing- Undef
CF 2510heterozygoteCF-causing- Undef
CF 3005heterozygoteCF-causing - Trans
CF 3077heterozygoteCF-causing- Undef
CF 3486heterozygoteCF-causing- Undef
CF 3491heterozygoteCF-causing- Undef
CF 3544heterozygoteCF-causing- Undef
CF 3600heterozygoteCF-causing - Trans
CF 4466heterozygoteCF-causing - Trans
CBAVD 931heterozygoteCFTR-RD-causing - Trans
CBAVD 1373heterozygoteVUS3- Undef
CBAVD 2437heterozygoteVUS3- Undef
Pending (NBS) 3771heterozygotevarying clinical consequence - Trans
Pending (NBS) 3817heterozygotevarying clinical consequence - Trans
Pending (NBS) 3872heterozygotevarying clinical consequence - 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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