Variant NM_000492.4:c.254G>T


Variant details:
Name NM_000492.4:c.254G>T
Protein name NP_000483.3:p.(Gly85Val)
Genomic name (hg19) chr7:g.117149177G>T    UCSC    
#Exon/intron exon 3
Legacy Name G85V
Class disease-causing
Subclass CF-causing
WT sequence TTTTTCTGGAGATTTATGTTCTATG G AATCTTTTTATATTTAGGGGTAAGG
Mutant sequence TTTTTCTGGAGATTTATGTTCTATG T AATCTTTTTATATTTAGGGGTAAGG

Other databases:

Not found		dbSNP
rs75961395



Pathogenicity predictors:

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Gene et al, 2008 18306312 ✓ ✓ ✓


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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 2
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 2857heterozygoteCF-causing - Trans
CF 4553heterozygoteCF-causing - Trans
CBAVD 4271heterozygotevarying 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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