Variant NM_000492.4:c.3209G>A


Variant details:
Name NM_000492.4:c.3209G>A
Protein name NP_000483.3:p.(Arg1070Gln)
Genomic name (hg19) chr7:g.117251704G>A    UCSC    gnomAD
#Exon/intron exon 20
Legacy Name R1070Q
Class disease-causing
Subclass varying clinical consequence
WT sequence CTATGGACACTTCGTGCCTTCGGAC G GCAGCCTTACTTTGAAACTCTGTTC
Mutant sequence CTATGGACACTTCGTGCCTTCGGAC A GCAGCCTTACTTTGAAACTCTGTTC


External sources:
dbSNP
rs78769542


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Seibert et al, 1996 8662892 ✓ ✓
Cotten et al, 1996 8702904 ✓
Mickle et al, 2000 10762539 ✓ ✓
Krasnov et al, 2008 18951463 ✓ ✓
Van Goor et al, 2014 23891399 ✓ ✓ ✓
Sosnay et al, 2013 23974870 ✓
Bergougnoux et al, 2022 36567205 ✓ ✓ ✓ ✓ ✓


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


Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yesnoyesno
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C35 0.00146 0 1
VUS2 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CF 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 5697heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1271homozygotec.1397C>G - p.(Ser466*) - Trans
c.3209G>A - p.(Arg1070Gln) - 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.