Variant NM_000492.4:c.2939T>A


Variant details:
Name NM_000492.4:c.2939T>A
Protein name NP_000483.3:p.(Ile980Lys)
Genomic name (hg19) chr7:g.117246758T>A    UCSC    
#Exon/intron exon 18
Legacy Name I980K
Class disease-causing
Subclass CFTR-RD-causing
WT sequence ATTCTTAATAGATTCTCCAAAGATA T AGCAATTTTGGATGACCTTCTGCCT
Mutant sequence ATTCTTAATAGATTCTCCAAAGATA A AGCAATTTTGGATGACCTTCTGCCT

Other databases:

Not found		dbSNP
rs397508463



Pathogenicity predictors:



Response to modulators:


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


clinical and functional data are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 12
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD10
  • Bronchiectasis  2
  • CBAVD  8




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4706heterozygoteCF-causing- Undef
CBAVD 2449heterozygoteCF-causing- Undef
CBAVD 2425heterozygoteCF-causing- Undef
CBAVD 1501heterozygoteCFTR-RD-causing- Undef
CBAVD 5229heterozygoteCF-causing - Trans
CBAVD 971heterozygoteCF-causing - Trans
CBAVD 512heterozygoteCFTR-RD-causing - Trans
CBAVD 449heterozygoteCF-causing - Trans
Bronchiectasis 950heterozygoteCF-causing- Undef
Bronchiectasis 4234heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 1290heterozygoteCFTR-RD-causing - Trans
CF 5040heterozygoteCF-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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