Variant NM_000492.4:c.870-1113_870-1110del


Variant details:
Name NM_000492.4:c.870-1113_870-1110del
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117179041_117179044del    UCSC    
Genomic name (hg38) chr7:g.117538987_117538990del    UCSC
#Exon/intron intron 7
Class disease-causing
Subclass varying clinical consequence
WT sequence CTCTTAGTTCTGCACTTGAGAATGA GAAT AGCTTTTCTGAATTATACAAGGAAG
Mutant sequence CTCTTAGTTCTGCACTTGAGAATGA ---- AGCTTTTCTGAATTATACAAGGAAG

Other databases:

Not found
Not found		dbSNP
no rs







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. yes yes



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 46
Asymptomatic compound heterozygote 1
CF 27
CFTR-RD17
  • Bronchiectasis  5
  • CBAVD  5
  • CRS-NP  3
  • Other  2
  • Pancreatitis  2
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 5174heterozygoteCF-causing - Trans
CF 3137heterozygoteCF-causing - Trans
CF 5016heterozygoteCF-causing- Undef
CF 5898heterozygoteCF-causing - Trans
CF 2489heterozygoteCF-causing- Undef
CF 5345heterozygoteCF-causing - Trans
CF 6481heterozygoteCF-causing- Undef
CF 6305heterozygoteCF-causing- Undef
CF 6504heterozygoteCF-causing- Undef
CF 6453heterozygoteCF-causing- Undef
CF 798heterozygoteCF-causing - Trans
CF 788heterozygoteCF-causing- Undef
CF 663heterozygoteVUS2 - Trans
CF-causing - Trans
CF 662heterozygoteVUS2 - Trans
CF-causing - Trans
CF 471heterozygoteCF-causing- Undef
CF 316heterozygoteCF-causing- Undef
CF 207heterozygoteCF-causing - Trans
CF 808heterozygoteCF-causing - Trans
CF 909heterozygoteCF-causing - Trans
CF 5899heterozygoteCF-causing - Trans
CF 1232heterozygoteCF-causing- Undef
CF 4796heterozygoteCF-causing - Trans
VUS3- Undef
VUS3- Undef
CF 5263heterozygoteCF-causing - Trans
CF 947heterozygoteCF-causing- Undef
CF 4718heterozygoteCF-causing - Trans
CF 4941homozygotec.870-1113_870-1110del - p.(=) - Trans
CF 4892homozygotec.1521_1523del - p.(Phe508del) - Trans
c.870-1113_870-1110del - p.(=) - Trans
Pancreatitis 5329heterozygote
Pancreatitis 4721heterozygoteCF-causing- Undef
CRS-NP 3161heterozygoteCF-causing - Trans
VUS3- Undef
CRS-NP 4649heterozygoteCF-causing - Trans
CRS-NP 349heterozygoteCF-causing - Trans
VUS1- Undef
CBAVD 6476heterozygoteVUS3- Undef
CBAVD 3271heterozygoteCFTR-RD-causing- Undef
CBAVD 3125heterozygoteCF-causing - Trans
VUS3- Undef
CBAVD 527heterozygote
CBAVD 1287heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 6435heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 5972heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 6399heterozygoteCF-causing- Undef
Bronchiectasis 6220heterozygoteCF-causing- Undef
Bronchiectasis 6347heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 6221heterozygote
Other 5967heterozygoteCF-causing - Cis
Other 5360heterozygoteCF-causing - Trans
Pending (NBS) 5951heterozygoteCF-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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