Variant NM_000492.4:c.3368-140A>C


Variant details:
Name NM_000492.4:c.3368-140A>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117254527A>C    UCSC    
Genomic name (hg38) chr7:g.117614473A>C    UCSC
#Exon/intron intron 20
Legacy Name 3500-140A/C
Class non disease-causing
WT sequence TATTAGTAGATGCTGTGATGAACTG A GATTTAAAAATTGTTAAAATTAGCA
Mutant sequence TATTAGTAGATGCTGTGATGAACTG C GATTTAAAAATTGTTAAAATTAGCA

Other databases:

Not found		dbSNP
rs213981







Pathogenicity predictors:

Not found




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


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

TOTAL NUMBER OF PATIENTS 10
CF 4
CFTR-RD4
  • CBAVD  2
  • Other  2
Pending (NBS) 2




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 579heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 4796heterozygoteVUS3- Undef
CF-causing- Undef
VUS3- Undef
varying clinical consequence- Undef
CF 654heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5188homozygotec.1792A>T - p.(Lys598*) - Trans
CBAVD 5181heterozygoteVUS3- Undef
CF-causing- Undef
VUS3- Undef
CBAVD 676heterozygoteCFTR-RD-causing- Undef
Other 5184heterozygoteVUS3- Undef
CF-causing- Undef
VUS3- Undef
varying clinical consequence- Undef
Other 4800heterozygoteVUS3- Undef
CF-causing- Undef
VUS3- Undef
varying clinical consequence- Undef
Pending (NBS) 5190heterozygoteCF-causing- Undef
VUS3- Undef
VUS3- Undef
varying clinical consequence- Undef
Pending (NBS) 5202heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS3- Undef


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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