Variant NM_000492.4:c.2908G>C


Variant details:
Name NM_000492.4:c.2908G>C
Protein name NP_000483.3:p.(Gly970Arg)
Genomic name (hg19) chr7:g.117243836G>C    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name G970R
Class disease-causing
Subclass CF-causing
WT sequence GTCAACCCTCAACACGTTGAAAGCA G GTACTTTACTAGGTCTAAGAAATGA
Mutant sequence GTCAACCCTCAACACGTTGAAAGCA C GTACTTTACTAGGTCTAAGAAATGA


External sources:
dbSNP
rs397508453


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Seibert et al, 1996 8910333 ✓ ✓ ✓
Caputo et al, 2009 19491324 ✓ ✓
Yu et al, 2012 22293084 ✓ ✓ ✓
Sosnay et al, 2013 23974870 ✓ ✓
Bergougnoux et al, 2022 36567205 ✓ ✓ ✓ ✓ ✓


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




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 1e-05 0 0.999
VUS5 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 4
CFTR-RD1
  • Bronchiectasis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Bronchiectasis 2446heterozygoteVUS3- Undef
CF 2770heterozygoteCF-causing - Trans
CF 2994heterozygotevarying clinical consequence - Trans
CF 2995heterozygotevarying clinical consequence - Trans
CF 4063heterozygoteCF-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.