Variant NM_000492.4:c.1210-34TG[12]


Variant details:
Name NM_000492.4:c.1210-34TG[12]
#Exon/intron intron 9
Legacy Name 1342-12(GT)n
Class non disease-causing







External sources:

Not found		dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 26
Asymptomatic compound heterozygote 2
CF 1
CFTR-RD21
  • Bronchiectasis  1
  • CBAVD  14
  • Other  5
  • Pancreatitis  1
Pending (NBS) 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 468heterozygoteCF-causing- Undef
CBAVD 1066heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 4531heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 1052heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
CBAVD 481heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 482heterozygoteCFTR-RD-causing- Undef
CBAVD 485heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 537heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 539heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 553heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 571heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 589heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 1030heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CBAVD 4543heterozygotevarying clinical consequence- Undef
VUS4- Undef
CF 637heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 2212heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
Pending (NBS) 726heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1073heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 1124heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 1134heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 4293heterozygoteVUS1- Undef
Other 4798heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Bronchiectasis 1120heterozygotevarying clinical consequence- Undef
Asymptomatic compound heterozygote 3032heterozygoteCF-causing- Undef
VUS1- Undef
Asymptomatic compound heterozygote 4235heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 3221heterozygoteVUS1- 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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