Variant NM_000492.4:c.1399C>T


Variant details:
Name NM_000492.4:c.1399C>T
Protein name NP_000483.3:p.(Leu467Phe)
Genomic name (hg19) chr7:g.117199524C>T    UCSC    gnomAD
#Exon/intron exon 11
Legacy Name 1531C/T (L467F)
Class VUS
Subclass VUS2
complex allele in 42.86% of patients associated with
  • c.1521_1523del - p.(Phe508del) : 100.00%
    • WT sequence TGATGGGTTTTATTTCCAGACTTCA C TTCTAATGGTGATTATGGGAGAACT
    Mutant sequence TGATGGGTTTTATTTCCAGACTTCA T TTCTAATGGTGATTATGGGAGAACT


    External sources:

    Not found    		dbSNP
    rs1800089






    Pathogenicity predictions:
    AGVGD MAPP SIFT PPH2
    C0 0.0186 0.03 1
    VUS1 VUS4 VUS5 VUS5

    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 14
    CF 9
    CFTR-RD5
    • CBAVD  5



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 4699heterozygoteCFTR-RD-causing- Undef
    CF-causing- Undef
    CBAVD 5460heterozygoteCF-causing - Cis
    VUS3 - Cis
    CFTR-RD-causing - Trans
    CBAVD 1644heterozygoteVUS3- Undef
    CF-causing- Undef
    CBAVD 1327heterozygoteCF-causing - Cis
    varying clinical consequence - Trans
    CBAVD 810heterozygoteCF-causing- Undef
    CFTR-RD-causing- Undef
    CF 4946heterozygoteCF-causing- Undef
    CF-causing- Undef
    CF 5256heterozygoteVUS3- Undef
    CF-causing- Undef
    CF 920heterozygoteCF-causing- Undef
    CF-causing- Undef
    CF 713heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 663heterozygoteCF-causing - Cis
    varying clinical consequence - Trans
    CF 662heterozygoteCF-causing - Cis
    varying clinical consequence - Trans
    CF 581heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 96heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 4406heterozygoteCF-causing- Undef
    CF-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.