Variant NM_000492.4:c.223C>T


Variant details:
Name NM_000492.4:c.223C>T
Protein name NP_000483.3:p.(Arg75*)
Genomic name (hg19) chr7:g.117149146C>T    UCSC    
#Exon/intron exon 3
Legacy Name R75X
Class disease-causing
Subclass CF-causing
WT sequence TCCTAAACTCATTAATGCCCTTCGG C GATGTTTTTTCTGGAGATTTATGTT
Mutant sequence TCCTAAACTCATTAATGCCCTTCGG T GATGTTTTTTCTGGAGATTTATGTT

Other databases:
dbSNP
rs121908749







Pathogenicity predictors:

Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 11
CF 9
CFTR-RD1
  • CBAVD  1
Fetal bowel anomalies 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 89heterozygoteCF-causing - Trans
CF 6181heterozygoteCF-causing - Trans
CF 6170heterozygoteCF-causing- Undef
CF 6086heterozygoteCF-causing - Trans
CF 2495heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CF 883heterozygoteCF-causing - Trans
CF 604heterozygoteCF-causing - Trans
CF 6018heterozygoteCF-causing - Trans
CF 6097homozygotec.223C>T - p.(Arg75*) - Trans
CBAVD 5673heterozygoteCF-causing- Undef
Fetal bowel anomalies 3776heterozygoteCF-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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