Variant NM_000492.4:c.2737_2738insG


Variant details:
Name NM_000492.4:c.2737_2738insG
Protein name NP_000483.3:p.(Tyr913*)
Genomic name (hg19)     chr7:g.117243665_117243666insG    UCSC    
Genomic name (hg38) chr7:g.117603611_117603612insG    UCSC
#Exon/intron exon 17
Legacy Name 2869insG
Class disease-causing
Subclass CF-causing
WT sequence GTGATTATCACCAGCACCAGTTCGT - ATTATGTGTTTTACATTTACGTGGG
Mutant sequence GTGATTATCACCAGCACCAGTTCGT G ATTATGTGTTTTACATTTACGTGGG

Other databases:
dbSNP
rs121908788







Pathogenicity predictors:

Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 10
CF 4
CFTR-RD6
  • CBAVD  3
  • Pancreatitis  3




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 529heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
CBAVD 640heterozygoteCFTR-RD-causing- Undef
CBAVD 4971homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.2737_2738insG - p.(Tyr913*) - Trans
CF 6094heterozygoteCF-causing- Undef
CF 5148heterozygoteCF-causing - Trans
CF 816heterozygoteCF-causing - Trans
CF 6036heterozygoteCF-causing- Undef
Pancreatitis 6188heterozygoteCFTR-RD-causing - Trans
Pancreatitis 4642heterozygoteCFTR-RD-causing- Undef
Pancreatitis 5397heterozygoteCFTR-RD-causing- Undef


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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