Updates for c.3254A>G:
2015-07-03 class changed from unclassified to disease-causing




Variant NM_000492.4:c.3254A>G


Variant details:
Name NM_000492.4:c.3254A>G
Protein name NP_000483.3:p.(His1085Arg)
Genomic name (hg19)     chr7:g.117251749A>G    UCSC    
Genomic name (hg38) chr7:g.117611695A>G    UCSC
#Exon/intron exon 20
Legacy Name H1085R
Class disease-causing
Subclass CF-causing
WT sequence CTGTTCCACAAAGCTCTGAATTTAC A TACTGCCAACTGGTTCTTGTACCTG
Mutant sequence CTGTTCCACAAAGCTCTGAATTTAC G TACTGCCAACTGGTTCTTGTACCTG

Other databases:
dbSNP
rs79635528



Pathogenicity predictors:

Functional studies:         +


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Seibert et al, 1996 8662892 ✓ ✓
Cotten et al, 1996 8702904 ✓
Van Goor et al, 2014 23891399 ✓ ✓ ✓


« ✓ » indicates the type of analysis performed and not the results


Response to modulators:         +


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVAnononono
TEZ-IVAnononono
ELX-TEZ-IVA yesnoyesno
VNZ-TEZ-DIVA yesnoyesno

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 3




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1579heterozygoteCF-causing- Undef
CF 1999heterozygoteVUS3- Undef
CF-causing- Undef
CF 2675heterozygoteVUS3- Undef
CF-causing- Undef


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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