Variant NM_000492.4:c.1210-34_1210-6TG[11]T[9]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[11]T[9]
#Exon/intron intron 9
Legacy Name TG11T9
Class non disease-causing







External sources:

Not found
Not found		dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 29
Asymptomatic compound heterozygote 2
CF 5
CFTR-RD22
  • Bronchiectasis  8
  • CBAVD  10
  • Other  3
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4729heterozygoteVUS3- Undef
VUS5- Undef
CBAVD 3367heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
CBAVD 5946heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 4814heterozygoteVUS2- Undef
CF-causing- Undef
CBAVD 2886heterozygoteCFTR-RD-causing - Trans
VUS2- Undef
VUS4- Undef
VUS4- Undef
CBAVD 394heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 448heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 475heterozygoteVUS3 - Trans
VUS1- Undef
CF-causing- Undef
CBAVD 1250heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 2726heterozygoteCFTR-RD-causing - Trans
CF 4744heterozygoteCF-causing - Trans
VUS3- Undef
CF 4605heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 929heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1178heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1228heterozygoteCF-causing - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 4303heterozygoteVUS2- Undef
CFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5818heterozygoteVUS2- Undef
VUS3- Undef
Bronchiectasis 4623heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4607heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 4608heterozygoteVUS5- Undef
CF-causing- Undef
Bronchiectasis 2168heterozygoteVUS3 - Trans
VUS2- Undef
Bronchiectasis 2419heterozygoteVUS3 - Trans
VUS1- Undef
Bronchiectasis 2501heterozygoteVUS3 - Trans
VUS2- Undef
Bronchiectasis 4613heterozygoteCFTR-RD-causing- Undef
Bronchiectasis 4604homozygotec.1521_1523del - p.(Phe508del) - Trans
c.3454G>C - p.(Asp1152His) - Trans
Pancreatitis 4619heterozygoteVUS3 - Trans
VUS3- Undef
Other 4539heterozygoteVUS3 - Trans
VUS2- Undef
VUS1- Undef
Other 4587heterozygoteCFTR-RD-causing- Undef
Other 4600heterozygoteCF-causing- Undef
varying 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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