Variant NM_000492.4:c.2988+1173_3468+2111del


Variant details:
Name NM_000492.4:c.2988+1173_3468+2111del
Protein name NP_000483.3:p.(Leu997_Leu1156del)
Genomic name (hg19) chr7:g.117247980_117256878del    UCSC    
#Exon/intron intron 18
Legacy Name Del exon 17a-17b-18
Class disease-causing
Subclass CF-causing
WT sequence AATTCATGCATTCAAAGAAACATGT CCTGAG [8887bp] ATATGT GAGTGATTTCCCTGCCAAATAGCAC
Mutant sequence AATTCATGCATTCAAAGAAACATGT ---------------------- GAGTGATTTCCCTGCCAAATAGCAC

Other databases:

Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 9
CF 5
CFTR-RD2
  • CBAVD  2
Fetal bowel anomalies 1
Pending 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1405heterozygoteCFTR-RD-causing - Trans
CBAVD 5875heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 1583heterozygoteCF-causing - Trans
CF 5059heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CF 2518heterozygoteCF-causing- Undef
CF 3969heterozygoteCF-causing - Trans
CF 4558homozygotec.2988+1173_3468+2111del - p.(Leu997_Leu1156del) - Trans
Fetal bowel anomalies 4948heterozygoteCF-causing - Trans
Pending 5771heterozygoteCF-causing - Trans


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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