Variant NM_000492.4:c.2875del


Variant details:
Name NM_000492.4:c.2875del
Protein name NP_000483.3:p.(Ala959Hisfs*9)
Genomic name (hg19) chr7:g.117243803del    UCSC    
#Exon/intron exon 17
Legacy Name 3007delG
Class disease-causing
Subclass CF-causing
WT sequence CAAAATGTTACATTCTGTTCTTCAA G CACCTATGTCAACCCTCAACACGTT
Mutant sequence CAAAATGTTACATTCTGTTCTTCAA - CACCTATGTCAACCCTCAACACGTT






External sources:
dbSNP
rs397508447
Not found







1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 16
CF 14
CFTR-RD2
  • Bronchiectasis  1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 174heterozygoteCF-causing- Undef
CF 4231heterozygoteCF-causing - Trans
CF 4066heterozygoteCF-causing- Undef
CF 3489heterozygoteCF-causing- Undef
CF 3488heterozygoteCF-causing- Undef
CF 3210heterozygoteCF-causing- Undef
CF 3209heterozygoteCF-causing- Undef
CF 3109heterozygoteVUS4 - Trans
CF 3045heterozygoteCF-causing - Trans
CF 2975heterozygoteCF-causing - Trans
CF 2974heterozygoteCF-causing - Trans
CF 2783heterozygoteCF-causing - Trans
CF 2241heterozygoteVUS4- Undef
CF 373heterozygoteCF-causing - Trans
Bronchiectasis 4242heterozygote
Other 4292heterozygoteCFTR-RD-causing - Trans


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   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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