Variant NM_000492.4:c.1210-34TG[11]


Variant details:
Name NM_000492.4:c.1210-34TG[11]
#Exon/intron intron 9
Legacy Name 1342-12(GT)n
Class non disease-causing

Other databases:

Not found		dbSNP
no rs








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 66
CF 14
CFTR-RD50
  • Bronchiectasis  2
  • CBAVD  31
  • Other  14
  • Pancreatitis  3
Pending (NBS) 2




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 1151heterozygoteCF-causing- Undef
VUS3- Undef
CF 1128heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CF-causing- Undef
CF 1121heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4776heterozygotevarying clinical consequence- Undef
varying clinical consequence- Undef
CF 1153heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1157heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1166heterozygoteCF-causing- Undef
CF-causing- Undef
CF 4297heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1211heterozygoteCF-causing- Undef
CF-causing- Undef
CF 488heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 383heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CF-causing- Undef
CF 745heterozygoteCF-causing- Undef
CF-causing- Undef
CF 559heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 297heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
Pending (NBS) 4549heterozygoteCF-causing- Undef
VUS3- Undef
Pending (NBS) 387heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 4310heterozygoteCF-causing- Undef
CBAVD 4291heterozygoteVUS3- Undef
CBAVD 4264heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 1979heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CBAVD 1177heterozygotevarying clinical consequence- Undef
CBAVD 774heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 492heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 483heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 481heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 477heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 469heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 447heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 432heterozygoteCF-causing- Undef
CBAVD 425heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 412heterozygoteCF-causing- Undef
likely CFTR-RD- Undef
CBAVD 411heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 407heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 494heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 498heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 513heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 712heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 687heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 679heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 678heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 571heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 544heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 541heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 539heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 537heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 530heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 515heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 4815heterozygoteCF-causing- Undef
CF-causing- Undef
Pancreatitis 4299heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Pancreatitis 669heterozygoteCF-causing- Undef
Other 1124heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
CFTR-RD-causing- Undef
Other 1113heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
VUS1- Undef
Other 1098heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1082heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 1061heterozygoteVUS2- Undef
Other 4792heterozygoteCF-causing- Undef
VUS1- Undef
Other 4798heterozygotevarying clinical consequence- Undef
CF-causing- Undef
Other 4783heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4547heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4813heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4812heterozygoteCF-causing- Undef
VUS3- Undef
Other 4262heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Other 1185heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Other 4770heterozygoteCF-causing- Undef
VUS1- Undef
Bronchiectasis 1117heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 1090heterozygoteCF-causing- Undef
VUS1- Undef
varying clinical consequence- 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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