Variant NM_000492.4:c.489+1G>T


Variant details:
Name NM_000492.4:c.489+1G>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117171169G>T    UCSC    
Genomic name (hg38) chr7:g.117531115G>T    UCSC
#Exon/intron intron 4
Legacy Name 621+1G>T
Class disease-causing
Subclass CF-causing
WT sequence TATGTTTAGTTTGATTTATAAGAAG G TAATACTTCCTTGCACAGGCCCCAT
Mutant sequence TATGTTTAGTTTGATTTATAAGAAG T TAATACTTCCTTGCACAGGCCCCAT

Other databases:
dbSNP
rs78756941







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


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

TOTAL NUMBER OF PATIENTS 22
CF 17
CFTR-RD2
  • CBAVD  1
  • Pancreatitis  1
Fetal bowel anomalies 1
Pending 1
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 91heterozygoteCF-causing - Trans
CF 6395heterozygoteCF-causing- Undef
CF 3825heterozygoteCF-causing- Undef
CF 3965heterozygoteCF-causing- Undef
CF 4043heterozygoteCF-causing- Undef
CF 4047heterozygoteCF-causing- Undef
CF 4091heterozygoteCF-causing - Trans
CF 4326heterozygoteCF-causing - Trans
CF 4344heterozygoteCF-causing- Undef
CF 1654heterozygoteCF-causing- Undef
CF 110heterozygoteCF-causing - Trans
CF 194heterozygoteCF-causing - Trans
CF 509heterozygoteCF-causing - Trans
CF 1036heterozygoteCF-causing - Trans
CF 1133heterozygoteCF-causing - Trans
CF 1560heterozygoteCF-causing - Trans
CF 4387heterozygoteCF-causing- Undef
Fetal bowel anomalies 948homozygotec.489+1G>T - p.(=) - Trans
Pending 1075heterozygote
CBAVD 1319heterozygoteCFTR-RD-causing- Undef
Pancreatitis 4993heterozygoteCFTR-RD-causing- Undef
Pending (NBS) 5350heterozygoteCFTR-RD-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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