Updates for c.3717+45G>A:
2025-11-07 Class updated from VUS to likely benign (based on high frequency in the general population and patients data)




Variant NM_000492.4:c.3717+45G>A


Variant details:
Name NM_000492.4:c.3717+45G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117267869G>A    UCSC    
Genomic name (hg38) chr7:g.117627815G>A    UCSC
#Exon/intron intron 22
Legacy Name 3849+45G>A
Class likely benign
WT sequence TGCTTTGTTAGACTGTGTTCAGTAA G TGAATCCCAGTAGCCTGAAGCAATG
Mutant sequence TGCTTTGTTAGACTGTGTTCAGTAA A TGAATCCCAGTAGCCTGAAGCAATG

Other databases:

Not found		dbSNP
rs145743767







Pathogenicity predictors:

Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
Asymptomatic compound heterozygote 1
CFTR-RD4
  • CBAVD  3
  • Other  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
Other 1113heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2261heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2504heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 2594heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 2396heterozygoteCFTR-RD-causing - Cis
Fetal bowel anomalies 2397heterozygoteCFTR-RD-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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