Variant NM_000492.4:c.658C>T


Variant details:
Name NM_000492.4:c.658C>T
Protein name NP_000483.3:p.(Gln220*)
Genomic name (hg19)     chr7:g.117175380C>T    UCSC    
Genomic name (hg38) chr7:g.117535326C>T    UCSC
#Exon/intron exon 6
Legacy Name Q220X
Class disease-causing
Subclass CF-causing
WT sequence CATGGGGCTAATCTGGGAGTTGTTA C AGGCGTCTGCCTTCTGTGGACTTGG
Mutant sequence CATGGGGCTAATCTGGGAGTTGTTA T AGGCGTCTGCCTTCTGTGGACTTGG

Other databases:
dbSNP
rs397508778







Pathogenicity predictors:

Not found




Response to modulators:


Reference PMID Modulator in vitro / ex vivo data clinical data Patient responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yesno



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 18
CF 16
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 4716heterozygoteCF-causing - Trans
CF 4043heterozygoteCF-causing- Undef
CF 3832heterozygoteCF-causing - Trans
CF 3629heterozygoteCF-causing - Trans
CF 3575heterozygoteCF-causing - Trans
CF 3476heterozygoteCF-causing - Trans
CF 2442heterozygoteCF-causing- Undef
CF 2410heterozygoteCF-causing- Undef
CF 1998heterozygoteCF-causing- Undef
CF 1538heterozygoteCF-causing - Trans
CF 5180heterozygoteCF-causing - Trans
CF 379heterozygoteCF-causing - Trans
CF 270heterozygoteCF-causing - Trans
CF 204heterozygoteCF-causing - Trans
VUS3- Undef
CF 143heterozygoteCF-causing - Trans
CF 4269heterozygoteCF-causing - Trans
CBAVD 812heterozygoteCFTR-RD-causing - Trans
Fetal bowel anomalies 923heterozygoteCF-causing - Trans


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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