Variant NM_000492.4:c.1471T>C


Variant details:
Name NM_000492.4:c.1471T>C
Protein name NP_000483.3:p.(Cys491Arg)
Genomic name (hg19) chr7:g.117199596T>C    UCSC    gnomAD
#Exon/intron exon 11
Legacy Name C491R
Class disease-causing
Subclass varying clinical consequence
WT sequence TAAGCACAGTGGAAGAATTTCATTC T GTTCTCAGTTTTCCTGGATTATGCC
Mutant sequence TAAGCACAGTGGAAGAATTTCATTC C GTTCTCAGTTTTCCTGGATTATGCC


External sources:

Not found		dbSNP
rs397508213






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 2e-05 0.12 0.999
VUS1 VUS5 VUS2 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 3
CFTR-RD1
  • Other  1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 2837heterozygoteCF-causing - Trans
CF 1072homozygotec.1471T>C - p.(Cys491Arg) - Trans
CF 4232homozygotec.1471T>C - p.(Cys491Arg) - Trans
Other 3247heterozygoteCF-causing- Undef
Pending (NBS) 4569heterozygoteCF-causing - Trans


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.