Variant NM_000492.4:c.2909-71G>C


Variant details:
Name NM_000492.4:c.2909-71G>C
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117246657G>C    UCSC    
#Exon/intron intron 17
Legacy Name 3041-71G/C
Class non disease-causing
WT sequence ATGCGTCTACTGTGATCCAAACTTA G TATTGAATATATTGATATATCTTTA
Mutant sequence ATGCGTCTACTGTGATCCAAACTTA C TATTGAATATATTGATATATCTTTA

Other databases:

Not found		dbSNP
rs34830471







Pathogenicity predictors:

Not found





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


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

TOTAL NUMBER OF PATIENTS 21
Asymptomatic compound heterozygote 2
CF 5
CFTR-RD14
  • Bronchiectasis  2
  • CBAVD  6
  • Other  5
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 177heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4480heterozygoteCF-causing- Undef
VUS2- Undef
CF 4744heterozygoteCF-causing- Undef
VUS3- Undef
CF 3200heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1178heterozygoteCF-causing- Undef
CF-causing- Undef
CBAVD 5946heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 448heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 720heterozygoteCFTR-RD-causing- Undef
CBAVD 868heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 1276heterozygoteVUS3- Undef
CFTR-RD-causing- Undef
CBAVD 2504heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
VUS1- Undef
Other 5175heterozygoteCF-causing- Undef
VUS3- Undef
Other 5775heterozygoteCF-causing- Undef
VUS3- Undef
VUS3- Undef
Other 4539heterozygoteVUS3- Undef
non-CF- Undef
Other 5187heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4587heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 4253heterozygoteVUS3- Undef
Bronchiectasis 2501heterozygoteVUS3- Undef
Pancreatitis 5010heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4303heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4526heterozygoteVUS1- 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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