Variant NM_000492.4:c.2657+2_2657+3insA


Variant details:
Name NM_000492.4:c.2657+2_2657+3insA
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117242919_117242920insA    UCSC    
#Exon/intron intron 16
Legacy Name 2789+2insA
Class disease-causing
Subclass CFTR-RD-causing
WT sequence GTTGTGCTGTGGCTCCTTGGAAAGT - GAGTATTCCATGTCCTATTGTGTAG
Mutant sequence GTTGTGCTGTGGCTCCTTGGAAAGT A GAGTATTCCATGTCCTATTGTGTAG






External sources:
dbSNP
rs397508414
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
Asymptomatic compound heterozygote 1
CFTR-RD3
  • CBAVD  2
  • Other  1
Pending (NBS) 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending (NBS) 5351heterozygoteCF-causing - Trans
Pending (NBS) 5350heterozygoteCF-causing- Undef
CBAVD 2564heterozygoteCF-causing- Undef
CBAVD 2664heterozygoteCF-causing- Undef
Other 4627heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans
Asymptomatic compound heterozygote 4628heterozygoteVUS3 - 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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