Variant NM_000492.4:c.2989-977_3367+248del


Variant details:
Name NM_000492.4:c.2989-977_3367+248del
Protein name NP_000483.3:p.(Leu997Glufs*11)
Genomic name (hg19) chr7:g.117249596_117252110del    UCSC    
#Exon/intron intron 18
Legacy Name 3121-977_3499+248del2515 ; del 17a-17b
Class disease-causing
Subclass CF-causing
WT sequence GACTTTGTACCTTTTAAAAATGTAT GTATTT [2503bp] ATACAT ATATATATATAGTATTATCCCTGTT
Mutant sequence GACTTTGTACCTTTTAAAAATGTAT ---------------------- ATATATATATAGTATTATCCCTGTT

Other databases:
dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CF 2




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 221heterozygoteCF-causing- Undef
CF 251heterozygoteCF-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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