Variant NM_000492.4:c.3700A>G


Variant details:
Name NM_000492.4:c.3700A>G
Protein name NP_000483.3:p.(Ile1234Val)
Genomic name (hg19) chr7:g.117267807A>G    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name I1234V
Class disease-causing
Subclass CF-causing
WT sequence CATATTAGAGAACATTTCCTTCTCA A TAAGTCCTGGCCAGAGGGTGAGATT
Mutant sequence CATATTAGAGAACATTTCCTTCTCA G TAAGTCCTGGCCAGAGGGTGAGATT


External sources:
dbSNP
rs75389940


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Sosnay et al, 2013 23974870 ✓ ✓
Ramalho et al, 2016 25735457 ✓ ✓ ✓ ✓ ✓


« ✓ » indicates the type of analysis performed and not the results




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.628 0.81 0.001
VUS1 VUS1 VUS1 VUS1

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 7
CF 6
CFTR-RD1
  • CBAVD  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 332heterozygoteCF-causing - Trans
CF 1026heterozygoteCF-causing - Trans
CF 1666heterozygoteCF-causing- Undef
CF 1944heterozygoteCF-causing- Undef
CF 3728homozygotec.3700A>G - p.(Ile1234Val) - Trans
CF 3810homozygotec.3700A>G - p.(Ile1234Val) - Trans
CBAVD 557heterozygoteCFTR-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.