Variant NM_000492.4:c.1585-9218G>A


Variant details:
Name NM_000492.4:c.1585-9218G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117218575G>A    UCSC    gnomAD
#Exon/intron intron 11
Class non disease-causing
WT sequence TCTGGTAGTTACAAGTTATATGTGG G TGTTCGACTGCATGGGGAGTCAGCA
Mutant sequence TCTGGTAGTTACAAGTTATATGTGG A TGTTCGACTGCATGGGGAGTCAGCA






External sources:

Not found
Not found		dbSNP
no rs
Not found







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


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

TOTAL NUMBER OF PATIENTS 8
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD6
  • Aquagenic palmoplantar keratoderma  1
  • CBAVD  1
  • Pancreatitis  4



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 5173homozygotec.1521_1523del - p.(Phe508del) - Trans
c.166G>A - p.(Glu56Lys) - Trans
c.3080T>C - p.(Ile1027Thr) - Trans
CF 5174homozygotec.1521_1523del - p.(Phe508del) - Trans
c.870-1113_870-1110del - p.(=) - Trans
Aquagenic palmoplantar keratoderma 5149homozygotec.1210-34_1210-6TG[11]T[5] - Trans
c.1521_1523del - p.(Phe508del) - Trans
Pancreatitis 5171heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 5155heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
VUS3- Undef
Pancreatitis 5165homozygotec.2502T>G - p.(Phe834Leu) - Trans
c.3718-79T>C - p.(=) - Trans
Pancreatitis 5154homozygotec.2619+106T>A - p.(=) - Trans
c.350G>A - p.(Arg117His) - Trans
c.509G>A - p.(Arg170His) - Trans
Asymptomatic compound heterozygote 5167heterozygoteVUS1- Undef
varying clinical consequence- Undef


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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