Variant NM_000492.4:c.2735C>T


Variant details:
Name NM_000492.4:c.2735C>T
Protein name NP_000483.3:p.(Ser912Leu)
Genomic name (hg19) chr7:g.117243663C>T    UCSC    
#Exon/intron exon 17
Legacy Name S912L
Class non disease-causing
WT sequence GCAGTGATTATCACCAGCACCAGTT C GTATTATGTGTTTTACATTTACGTG
Mutant sequence GCAGTGATTATCACCAGCACCAGTT T GTATTATGTGTTTTACATTTACGTG

Other databases:
dbSNP
rs121909034



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


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

TOTAL NUMBER OF PATIENTS 5
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD2
  • Bronchiectasis  1
  • CRS-NP  1
Fetal bowel anomalies 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Fetal bowel anomalies 621heterozygoteCFTR-RD-causing - Trans
CRS-NP 5130heterozygotevarying clinical consequence- Undef
Bronchiectasis 1792heterozygoteCF-causing- Undef
CF 2898heterozygoteCF-causing - Cis
CF-causing - Trans
VUS3- Undef
Asymptomatic compound heterozygote 2966heterozygoteCF-causing - Cis
CFTR-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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