Variant NM_000492.4:c.2490+1G>A


Variant details:
Name NM_000492.4:c.2490+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117232712G>A    UCSC    gnomAD
#Exon/intron intron 14
Legacy Name 2622+1G>A
Class disease-causing
Subclass CF-causing
WT sequence AGAAATTAACGAAGAAGACTTAAAG G TAGGTATACATCGCTTGGGGGTATT
Mutant sequence AGAAATTAACGAAGAAGACTTAAAG A TAGGTATACATCGCTTGGGGGTATT






External sources:
dbSNP
rs141158996
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
Asymptomatic compound heterozygote 1
CF 10
CFTR-RD2
  • Bronchiectasis  1
  • CBAVD  1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4716heterozygoteCF-causing - Trans
CF 4398heterozygoteCF-causing - Trans
CF 4379heterozygoteCF-causing - Trans
CF 3743heterozygoteCF-causing - Trans
CF 3571heterozygoteCF-causing - Trans
CF 3448heterozygoteCF-causing- Undef
CF 1965heterozygoteCF-causing- Undef
CF 1596heterozygoteCF-causing- Undef
CF 357heterozygoteCF-causing - Trans
CF 4481heterozygoteCF-causing- Undef
CBAVD 1325heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 5890heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4358heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Pending (NBS) 4410heterozygoteCFTR-RD-causing - Trans


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   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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