Variant NM_000492.4:c.1116+1G>A


Variant details:
Name NM_000492.4:c.1116+1G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117180401G>A    UCSC    gnomAD
#Exon/intron intron 8
Legacy Name 1248+1G>A
Class disease-causing
Subclass CF-causing
WT sequence TCTTGGAGCAATAAACAAAATACAG G TAATGTACCATAATGCTGCATTATA
Mutant sequence TCTTGGAGCAATAAACAAAATACAG A TAATGTACCATAATGCTGCATTATA






External sources:
dbSNP
rs397508158
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 2
CFTR-RD3
  • CBAVD  1
  • Other  2
Fetal bowel anomalies 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 5082heterozygoteVUS3 - Trans
Other 4963heterozygotevarying clinical consequence- Undef
VUS3- Undef
CBAVD 572heterozygoteVUS4 - Trans
CF 1138heterozygoteCF-causing - Trans
CF 4964heterozygotevarying clinical consequence- Undef
VUS3- Undef
Fetal bowel anomalies 1302heterozygoteCF-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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