Variant NM_000492.4:c.3963+69A>G


Variant details:
Name NM_000492.4:c.3963+69A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117293054A>G    UCSC    
Genomic name (hg38) chr7:g.117653000A>G    UCSC
#Exon/intron intron 24
Class non disease-causing
WT sequence CCAACACAAATGGCTGATATAGCTG A CATCATTCTACACACTTTGTGTGCA
Mutant sequence CCAACACAAATGGCTGATATAGCTG G CATCATTCTACACACTTTGTGTGCA

Other databases:

Not found		dbSNP
rs540577876







Pathogenicity predictors:

Not found




1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
CF 1
CFTR-RD5
  • Bronchiectasis  1
  • CBAVD  4




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 389heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
CBAVD 475heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
CF-causing- Undef
CBAVD 725heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
CF-causing- Undef
CBAVD 919heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
CF-causing- Undef
Bronchiectasis 777heterozygoteCFTR-RD-causing- Undef
non-CF- Undef
CF 780homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1684G>A - p.(Val562Ile) - Trans
c.2215del - p.(Val739Tyrfs*16) - 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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