Variant NM_000492.4:c.650A>G


Variant details:
Name NM_000492.4:c.650A>G
Protein name NP_000483.3:p.(Glu217Gly)
Genomic name (hg19) chr7:g.117175372A>G    UCSC    gnomAD
#Exon/intron exon 6
Legacy Name E217G
Class VUS
Subclass VUS2
WT sequence GCACTCCTCATGGGGCTAATCTGGG A GTTGTTACAGGCGTCTGCCTTCTGT
Mutant sequence GCACTCCTCATGGGGCTAATCTGGG G GTTGTTACAGGCGTCTGCCTTCTGT


External sources:

Not found		dbSNP
rs121909046


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Hammerle et al, 2001 11278813 ✓ ✓ ✓
Lee et al, 2003 12952861 ✓ ✓ ✓


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




Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.2523 0.08 0.053
VUS1 VUS1 VUS4 VUS1

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
Asymptomatic compound heterozygote 2
CF 1
CFTR-RD1
  • CBAVD  1
Fetal bowel anomalies 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1569heterozygote
CBAVD 2638heterozygoteCF-causing- Undef
VUS2- Undef
Asymptomatic compound heterozygote 4289heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 4305heterozygoteVUS1 - Cis
CF-causing - Trans
Fetal bowel anomalies 4802heterozygoteCF-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.