Variant NM_000492.4:c.2723C>A


Variant details:
Name NM_000492.4:c.2723C>A
Protein name NP_000483.3:p.(Thr908Asn)
Genomic name (hg19) chr7:g.117243651C>A    UCSC    
#Exon/intron exon 17
Legacy Name T908N
Class disease-causing
Subclass CFTR-RD-causing
WT sequence AATAACAGCTATGCAGTGATTATCA C CAGCACCAGTTCGTATTATGTGTTT
Mutant sequence AATAACAGCTATGCAGTGATTATCA A CAGCACCAGTTCGTATTATGTGTTT

Other databases:

Not found		dbSNP
rs369521395



Pathogenicity predictors:

Functional studies:


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


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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CFTR-RD2
  • CBAVD  2




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1841heterozygoteCF-causing- Undef
CBAVD 3346heterozygoteCF-causing- Undef


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   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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