Variant NM_000492.4:c.2735C>A


Variant details:
Name NM_000492.4:c.2735C>A
Protein name NP_000483.3:p.(Ser912*)
Genomic name (hg19) chr7:g.117243663C>A    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name S912X
Class disease-causing
WT sequence GCAGTGATTATCACCAGCACCAGTT C GTATTATGTGTTTTACATTTACGTG
Mutant sequence GCAGTGATTATCACCAGCACCAGTT A GTATTATGTGTTTTACATTTACGTG






External sources:
dbSNP
rs121909034
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CF 1
Fetal bowel anomalies 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Fetal bowel anomalies 4958heterozygoteCF-causing - Trans
CF 5574heterozygoteVUS3 - Cis
CF-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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