Variant NM_000492.4:c.1210-34_1210-6TG[12]T[7]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[12]T[7]
#Exon/intron intron 9
Legacy Name TG12T7
Class non disease-causing

Other databases:

Not found
Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 86
Asymptomatic compound heterozygote 13
CF 21
CFTR-RD46
  • Bronchiectasis  7
  • CBAVD  20
  • CRS-NP  1
  • Other  9
  • Pancreatitis  9
Pending 1
Pending (NBS) 5




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1434heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
CBAVD 4650heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CBAVD 2211heterozygoteVUS3 - Trans
non-CF- Undef
CBAVD 4754heterozygoteCF-causing - Trans
CFTR-RD-causing- Undef
CBAVD 5068heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 5945heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 3288heterozygoteVUS3 - Cis
CF-causing - Trans
CBAVD 5325heterozygoteVUS3 - Cis
varying clinical consequence - Trans
CBAVD 1371heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
CBAVD 57heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
CBAVD 746heterozygoteCFTR-RD-causing - Trans
CBAVD 891heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 633heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 401heterozygoteCF-causing- Undef
CBAVD 419heterozygoteVUS3- Undef
CF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 626heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
CBAVD 1256heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4795heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4794heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 4552homozygotec.1657C>T - p.(Arg553*) - Trans
Other 4292heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Other 4315heterozygotevarying clinical consequence- Undef
Other 4567heterozygoteCF-causing- Undef
VUS3- Undef
Other 4695heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 4698heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Other 5243heterozygoteVUS3- Undef
Other 1123heterozygoteCFTR-RD-causing - Trans
CF-causing- Undef
Other 5136heterozygoteCF-causing- Undef
Other 4777heterozygoteVUS3 - Cis
CF-causing - Trans
Asymptomatic compound heterozygote 5164heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 4305heterozygoteCF-causing- Undef
VUS1- Undef
Asymptomatic compound heterozygote 4656heterozygoteVUS3- Undef
VUS3- Undef
Asymptomatic compound heterozygote 888heterozygoteVUS3 - Trans
Asymptomatic compound heterozygote 639heterozygoteCFTR-RD-causing - Cis
varying clinical consequence - Trans
Asymptomatic compound heterozygote 5081heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 4960heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5141heterozygoteCFTR-RD-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 1083heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 5140heterozygoteVUS3- Undef
CF-causing- Undef
Asymptomatic compound heterozygote 885heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 5812heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 5177homozygotec.2756A>G - p.(Tyr919Cys) - Trans
CF 5067heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1815heterozygoteCF-causing- Undef
CF 1516heterozygoteCF-causing- Undef
VUS2- Undef
CF 1517heterozygoteVUS3- Undef
CF-causing- Undef
CF-causing- Undef
CF 1518heterozygotelikely CF - Cis
CF-causing - Trans
CF 1569heterozygote
CF 1572heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4535heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4553heterozygoteCF-causing- Undef
CF-causing- Undef
CF 5341heterozygoteVUS3- Undef
CF-causing- Undef
CF 3119heterozygoteCF-causing - Cis
CF-causing - Trans
CF 4764heterozygoteCF-causing - Trans
CF-causing- Undef
CF 652heterozygoteCF-causing- Undef
CF-causing- Undef
CF 716heterozygoteCF-causing- Undef
CF-causing- Undef
CF 829heterozygoteCF-causing- Undef
varying clinical consequence- Undef
VUS3- Undef
CF 943heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 316heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 1137heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1293heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF 1313heterozygotelikely CF- Undef
CF 1271homozygotec.1397C>G - p.(Ser466*) - Trans
c.3209G>A - p.(Arg1070Gln) - Trans
CRS-NP 349heterozygoteCF-causing - Trans
VUS1- Undef
Pending (NBS) 1563heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 4645heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 951heterozygoteVUS2- Undef
CF-causing- Undef
likely CF- Undef
Pending (NBS) 5244heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 5816heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pending 1155heterozygoteVUS3 - Cis
CF-causing - Trans
Pancreatitis 2325heterozygoteCFTR-RD-causing - Trans
Pancreatitis 2418heterozygoteVUS3 - Trans
Pancreatitis 2427heterozygoteVUS3 - Trans
Pancreatitis 2871heterozygote
Pancreatitis 5623heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 5336heterozygoteVUS3- Undef
VUS3- Undef
Pancreatitis 3399heterozygote
Pancreatitis 5363heterozygoteCF-causing- Undef
Pancreatitis 1225heterozygoteCF-causing - Trans
Bronchiectasis 2340heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 2580heterozygoteVUS3 - Trans
non-CF- Undef
Bronchiectasis 2086heterozygoteCFTR-RD-causing - Trans
Bronchiectasis 1756heterozygoteCF-causing - Trans
Bronchiectasis 1761heterozygoteCF-causing - Trans
Bronchiectasis 4816heterozygote
Bronchiectasis 1237heterozygoteCF-causing- Undef
CFTR-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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