Variant NM_000492.4:c.1001G>A


Variant details:
Name NM_000492.4:c.1001G>A
Protein name NP_000483.3:p.(Arg334Gln)
Genomic name (hg19) chr7:g.117180285G>A    UCSC    
#Exon/intron exon 8
Legacy Name R334Q
Class disease-causing
Subclass varying clinical consequence
WT sequence GCACTAATCAAAGGAATCATCCTCC G GAAAATATTCACCACCATCTCATTC
Mutant sequence GCACTAATCAAAGGAATCATCCTCC A GAAAATATTCACCACCATCTCATTC

Other databases:
dbSNP
rs397508137



Pathogenicity predictors:



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVAnononono
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • Other  1




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 5678heterozygoteCFTR-RD-causing - Trans


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   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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