Variant NM_000492.4:c.2898G>A


Variant details:
Name NM_000492.4:c.2898G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117243826G>A    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name T966T (3030G/A)
Class non disease-causing
WT sequence AAGCACCTATGTCAACCCTCAACAC G TTGAAAGCAGGTACTTTACTAGGTC
Mutant sequence AAGCACCTATGTCAACCCTCAACAC A TTGAAAGCAGGTACTTTACTAGGTC






External sources:

Not found		dbSNP
rs1800109
Not found


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Bergougnoux et al, 2015 25797027 ✓ ✓ ✓


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





1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 15
Asymptomatic compound heterozygote 1
CF 3
CFTR-RD8
  • CBAVD  6
  • Pancreatitis  2
Fetal bowel anomalies 2
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4732heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 4391heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4480heterozygoteCF-causing- Undef
VUS2- Undef
Fetal bowel anomalies 578heterozygoteCF-causing - Cis
CF-causing - Trans
Fetal bowel anomalies 4738heterozygoteVUS3 - Trans
Pending (NBS) 5071heterozygoteVUS3- Undef
varying clinical consequence- Undef
VUS3- Undef
CBAVD 4754heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 4650heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 2869heterozygoteCF-causing- Undef
VUS2- Undef
CBAVD 891heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 859heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 485heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 3079heterozygoteVUS1- Undef
VUS1- Undef
Pancreatitis 776heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 4628heterozygoteVUS3- Undef
CFTR-RD-causing- Undef


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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