Variant NM_000492.4:c.2252G>T


Variant details:
Name NM_000492.4:c.2252G>T
Protein name NP_000483.3:p.(Arg751Leu)
Genomic name (hg19) chr7:g.117232473G>T    UCSC    
#Exon/intron exon 14
Legacy Name R751L
Class VUS
WT sequence GAGCAGGGAGAGGCGATACTGCCTC G CATCAGCGTGATCAGCACTGGCCCC
Mutant sequence GAGCAGGGAGAGGCGATACTGCCTC T CATCAGCGTGATCAGCACTGGCCCC

Other databases:

Not found		dbSNP
rs397508357



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

No patient found in CFTR-France




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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