Variant NM_000492.4:c.1986_1989del


Variant details:
Name NM_000492.4:c.1986_1989del
Protein name NP_000483.3:p.(Thr663Argfs*8)
Genomic name (hg19) chr7:g.117232207_117232210del    UCSC    
#Exon/intron exon 14
Legacy Name 2118del4 ; 2116delCTAA
Class disease-causing
Subclass CF-causing
WT sequence GTGCAGAAAGAAGAAATTCAATCCT AACT GAGACCTTACACCGTTTCTCATTAG
Mutant sequence GTGCAGAAAGAAGAAATTCAATCCT ---- GAGACCTTACACCGTTTCTCATTAG






External sources:
331
1093
 dbSNP
rs397508325
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
CF 5
CFTR-RD1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 322heterozygoteCF-causing - Trans
CF 1157heterozygoteCF-causing - Trans
CF 1235heterozygoteCF-causing - Trans
CF 1928heterozygoteCF-causing- Undef
CF 3408heterozygoteCF-causing - Trans
Other 5369heterozygotevarying clinical consequence- Undef


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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