Updates for c.3717+40A>G:
2018-03-26 class changed from unclassified to disease-causing
2021-01-18 subclass updated undefined to varying clinical consequence




Variant NM_000492.4:c.3717+40A>G


Variant details:
Name NM_000492.4:c.3717+40A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117267864A>G    UCSC    
Genomic name (hg38) chr7:g.117627810A>G    UCSC
#Exon/intron intron 22
Legacy Name 3849+40A>G
Class disease-causing
Subclass varying clinical consequence
WT sequence CTGCTTGCTTTGTTAGACTGTGTTC A GTAAGTGAATCCCAGTAGCCTGAAG
Mutant sequence CTGCTTGCTTTGTTAGACTGTGTTC G GTAAGTGAATCCCAGTAGCCTGAAG

Other databases:
dbSNP
rs397508595







Pathogenicity predictors:

Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 11
CF 4
CFTR-RD3
  • CBAVD  1
  • Other  2
Pending (NBS) 4




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 523heterozygotelikely CFTR-RD- Undef
CF 2077heterozygoteCF-causing- Undef
CF 1966heterozygoteCF-causing- Undef
CF 952heterozygoteCF-causing - Trans
CF 4499heterozygoteCF-causing - Trans
Pending (NBS) 4174heterozygoteCF-causing - Trans
Pending (NBS) 4145heterozygoteCF-causing- Undef
Pending (NBS) 5117heterozygoteCF-causing- Undef
Pending (NBS) 5118heterozygoteCF-causing- Undef
Other 5120heterozygoteCF-causing - Trans
Other 5119heterozygoteCF-causing- Undef


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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