Variant NM_000492.4:c.54-5811_164+2186delins182


Variant details:
Name NM_000492.4:c.54-5811_164+2186delins182
Protein name NP_000483.3:p.?
Genomic name (hg19) chr7:g.117138496_117146603delins182    UCSC    
#Exon/intron intron 1
Class disease-causing
Subclass CF-causing
WT sequence AATCAGAGGAGGGGAAATTAGTAAC TTGACC [8096bp] CTTTGA ATATCTAAGTTTTAATTGGATGCTG
Mutant sequence AATCAGAGGAGGGGAAATTAGTAAC 182------------------- ATATCTAAGTTTTAATTGGATGCTG

Other databases:

Not found
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 8
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4689heterozygoteCF-causing - Trans
CF 132heterozygoteCF-causing - Trans
VUS3 - Trans
CF 195heterozygoteCF-causing - Trans
VUS3- Undef
CF 204heterozygoteCF-causing - Trans
VUS3- Undef
CF 652heterozygoteCF-causing - Trans
CF 1251heterozygotevarying clinical consequence - Trans
CF 4853heterozygoteCF-causing - Trans
CF 4096heterozygoteCF-causing - Trans
CBAVD 537heterozygotevarying clinical consequence - 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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