Variant NM_000492.4:c.627A>G


Variant details:
Name NM_000492.4:c.627A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117175349A>G    UCSC    
#Exon/intron exon 6
Legacy Name A209A (759A/G)
Class VUS
complex allele in 50.00% of patients associated with
  • c.2989-313A>T - p.(=) : 100.00%
    • WT sequence TGTGGATCGCTCCTTTGCAAGTGGC A CTCCTCATGGGGCTAATCTGGGAGT
    Mutant sequence TGTGGATCGCTCCTTTGCAAGTGGC G CTCCTCATGGGGCTAATCTGGGAGT

    Other databases:

    Not found    		dbSNP
    rs397508773







    Pathogenicity predictors:

    Not found





    2 individuals carrying this variant are reported in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 6
    CF 3
    CFTR-RD1
    • Other  1
    Pending 1
    Pending (NBS) 1




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

    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CF 829heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    CF 4965heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 4964heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending 5804heterozygotevarying clinical consequence - Cis
    VUS3 - Trans
    non-CF - Trans
    Pending (NBS) 5803heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Other 4963heterozygoteCF-causing- Undef
    varying clinical consequence- 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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