Variant NM_000492.4:c.1766+73T>G


Variant details:
Name NM_000492.4:c.1766+73T>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117230566T>G    UCSC    gnomAD
#Exon/intron intron 13
Legacy Name 1898+73T>G
Class VUS
Subclass VUS1
WT sequence GAAAGACAGACTGTCCCATCATAGA T TGCATTTTACCTCTTGAGAAATATG
Mutant sequence GAAAGACAGACTGTCCCATCATAGA G TGCATTTTACCTCTTGAGAAATATG






External sources:

Not found		dbSNP
rs397508299
Not found







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


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

TOTAL NUMBER OF PATIENTS 4
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD2
  • CBAVD  1
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 294heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5528heterozygoteVUS3- Undef
CBAVD 1706heterozygotevarying clinical consequence- Undef
Pancreatitis 2329heterozygote


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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