Updates for c.1405A>G:
2018-03-26 class changed from unclassified to disease-causing




Variant NM_000492.4:c.1405A>G


Variant details:
Name NM_000492.4:c.1405A>G
Protein name NP_000483.3:p.(Met469Val)
Genomic name (hg19)     chr7:g.117199530A>G    UCSC    
Genomic name (hg38) chr7:g.117559476A>G    UCSC
#Exon/intron exon 11
Legacy Name M469V
Class disease-causing
WT sequence GTTTTATTTCCAGACTTCACTTCTA A TGGTGATTATGGGAGAACTGGAGCC
Mutant sequence GTTTTATTTCCAGACTTCACTTCTA G TGGTGATTATGGGAGAACTGGAGCC

Other databases:

Not found		dbSNP
rs397508203



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


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

TOTAL NUMBER OF PATIENTS 5
CFTR-RD5
  • Bronchiectasis  1
  • CBAVD  4




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1461heterozygoteCF-causing - Trans
CBAVD 2774heterozygotevarying clinical consequence- Undef
CBAVD 3310heterozygoteCF-causing- Undef
CBAVD 3405heterozygoteCF-causing- Undef
Bronchiectasis 1947heterozygoteCFTR-RD-causing- Undef


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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