Variant NM_000492.4:c.3908A>T


Variant details:
Name NM_000492.4:c.3908A>T
Protein name NP_000483.3:p.(Asn1303Ile)
Genomic name (hg19) chr7:g.117292930A>T    UCSC    
#Exon/intron exon 24
Legacy Name N1303I
Class disease-causing
Subclass CFTR-RD-causing
WT sequence ATTTTTTCTGGAACATTTAGAAAAA A CTTGGATCCCTATGAACAGTGGAGT
Mutant sequence ATTTTTTCTGGAACATTTAGAAAAA T CTTGGATCCCTATGAACAGTGGAGT

Other databases:

Not found		dbSNP
rs397508636



Pathogenicity predictors:





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 11
CFTR-RD7
  • CBAVD  7
Pending (NBS) 3
Pending non-CF 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending (NBS) 5820heterozygoteCF-causing - Trans
VUS3- Undef
Pending (NBS) 5017heterozygoteCF-causing - Trans
Pending (NBS) 3011heterozygoteCF-causing - Trans
CBAVD 3390heterozygoteCF-causing- Undef
CBAVD 3307heterozygoteCF-causing - Trans
CBAVD 4756heterozygoteCF-causing - Trans
CBAVD 5019heterozygoteCF-causing - Trans
CBAVD 5018heterozygoteCF-causing- Undef
CBAVD 2757heterozygoteCF-causing- Undef
CBAVD 2421heterozygoteCF-causing- Undef
Pending non-CF 5121heterozygoteCF-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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