Updates for c.1209+18A>C:
2025-11-07 Class updated from VUS to likely benign (based on patients data)




Variant NM_000492.4:c.1209+18A>C


Variant details:
Name NM_000492.4:c.1209+18A>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117182180A>C    UCSC    
Genomic name (hg38) chr7:g.117542126A>C    UCSC
#Exon/intron intron 9
Legacy Name 1341+18A>C
Class likely benign
WT sequence GGGAGGAGGTCAGAATTTTTAAAAA A TTGTTTGCTCTAAACACCTAACTGT
Mutant sequence GGGAGGAGGTCAGAATTTTTAAAAA C TTGTTTGCTCTAAACACCTAACTGT

Other databases:

Not found		dbSNP
rs193922499







Pathogenicity predictors:

Not found

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Raynal et al, 2013 23381846 ✓


« ✓ » indicates the type of analysis performed and not the results



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CF 1
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
CF 340heterozygoteCF-causing - Cis
CF-causing - Trans
CBAVD 403heterozygoteCF-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 (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.



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