Variant NM_000492.4:c.1645A>C


Variant details:
Name NM_000492.4:c.1645A>C
Protein name NP_000483.3:p.(Ser549Arg)
Genomic name (hg19)     chr7:g.117227853A>C    UCSC    
Genomic name (hg38) chr7:g.117587799A>C    UCSC
#Exon/intron exon 12
Legacy Name S549R(A>C)
Class disease-causing
Subclass CF-causing
WT sequence TCTTGGAGAAGGTGGAATCACACTG A GTGGAGGTCAACGAGCAAGAATTTC
Mutant sequence TCTTGGAGAAGGTGGAATCACACTG C GTGGAGGTCAACGAGCAAGAATTTC

Other databases:
dbSNP
rs121908757



Pathogenicity predictors:



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yes yesno yes
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno
VNZ-TEZ-DIVA yesnono yes

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 2
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 751heterozygoteVUS3 - Trans
CF 2379heterozygoteCF-causing- Undef
CF 6037heterozygoteCF-causing - Trans


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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.



Go to CFTRare