Variant NM_000492.4:c.744-33GATT[8]


Variant details:
Name NM_000492.4:c.744-33GATT[8]
#Exon/intron intron 6
Legacy Name TTGA repeats
Class non disease-causing







External sources:

Not found		dbSNP
no rs
Not found
Not found







No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 30
CF 5
CFTR-RD18
  • Bronchiectasis  1
  • CBAVD  16
  • Pancreatitis  1
Pending (NBS) 7



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4679heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 834heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 840heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 857heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 881heterozygoteVUS3- Undef
varying clinical consequence- Undef
CBAVD 912heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 978heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 765heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 4837heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 434heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CBAVD 490heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 491heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 548heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 614heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CBAVD 643heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CBAVD 4592heterozygotevarying clinical consequence - Cis
CFTR-RD-causing - Trans
Bronchiectasis 4726heterozygoteCFTR-RD-causing- Undef
varying clinical consequence- Undef
CF 4390heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 263heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 277heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 280heterozygoteCF-causing- Undef
varying clinical consequence- Undef
CF 381heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Pending (NBS) 799heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 1547heterozygotevarying clinical consequence - Cis
CF-causing - Trans
Pending (NBS) 4654heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 5342heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 3676heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 794heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pending (NBS) 590heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Pancreatitis 3259heterozygotevarying clinical consequence- Undef
CF-causing- 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.



Go to CFTRare