Updates for c.3469-17T>C:
2024-10-14 Class updated from VUS3 to unclassified /non-CF
2025-09-09 Class changed from VUS non-CF to non disease-causing




Variant NM_000492.4:c.3469-17T>C


Variant details:
Name NM_000492.4:c.3469-17T>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117267559T>C    UCSC    
Genomic name (hg38) chr7:g.117627505T>C    UCSC
#Exon/intron intron 21
Legacy Name 3601-17T>C
Class non disease-causing
WT sequence CTGCCATTCTTAAAAACAAAAATGT T GTTATTTTTATTTCAGATGCGATCT
Mutant sequence CTGCCATTCTTAAAAACAAAAATGT C GTTATTTTTATTTCAGATGCGATCT

Other databases:

Not found		dbSNP
rs199630678







Pathogenicity predictors:

Not found




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-RD3
  • Bronchiectasis  1
  • CBAVD  1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1373heterozygoteCF-causing- Undef
Bronchiectasis 1752heterozygoteCF-causing- Undef
Pancreatitis 2334heterozygoteCFTR-RD-causing- Undef
CF 5759heterozygoteCF-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 5760heterozygoteCF-causing- Undef


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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