Variant NM_000492.4:c.4091C>T


Variant details:
Name NM_000492.4:c.4091C>T
Protein name NP_000483.3:p.(Ala1364Val)
Genomic name (hg19) chr7:g.117304869C>T    UCSC    
#Exon/intron exon 25
Legacy Name A1364V
Class VUS
Subclass non-CF
WT sequence TTGGCTAGATCTGTTCTCAGTAAGG C GAAGATCTTGCTGCTTGATGAACCC
Mutant sequence TTGGCTAGATCTGTTCTCAGTAAGG T GAAGATCTTGCTGCTTGATGAACCC

Other databases:

Not found		dbSNP
rs397508670



Pathogenicity predictors:

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Bergougnoux et al, 2022 36567205 ✓ ✓ ✓ ✓ ✓


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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 420heterozygoteCF-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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