Variant NM_000492.4:c.3889dup


Variant details:
Name NM_000492.4:c.3889dup
Protein name NP_000483.3:p.(Ser1297Phefs*5)
Genomic name (hg19)     chr7:g.117292911dup    UCSC    
Genomic name (hg38) chr7:g.117652857dup    UCSC
#Exon/intron exon 24
Legacy Name 4016insT
Class disease-causing
Subclass CF-causing
WT sequence TTGCTATAGAAAGTATTTATTTTTT - CTGGAACATTTAGAAAAAACTTGGA
Mutant sequence TTGCTATAGAAAGTATTTATTTTTT T CTGGAACATTTAGAAAAAACTTGGA

Other databases:
dbSNP
rs121908808







Pathogenicity predictors:

Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 12
CF 8
CFTR-RD3
  • CBAVD  3
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4739heterozygoteCF-causing - Trans
CF 6532heterozygoteCF-causing- Undef
CF 1606heterozygoteCF-causing- Undef
CF 4780heterozygoteCF-causing - Trans
CF 272heterozygoteCF-causing- Undef
CF 242heterozygoteCF-causing- Undef
CF 4004heterozygoteCF-causing- Undef
CF 1682homozygotec.3889dup - p.(Ser1297Phefs*5) - Trans
CBAVD 6545heterozygoteCFTR-RD-causing- Undef
CBAVD 938heterozygoteCFTR-RD-causing - Trans
CBAVD 550heterozygotelikely CFTR-RD- Undef
Pending (NBS) 1307heterozygoteVUS3 - Trans


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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