Variant NM_000492.4:c.-966T>G


Variant details:
Name NM_000492.4:c.-966T>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117119183T>G    UCSC    
#Exon/intron UTR 5
Legacy Name -834T/G ; -895T/G (from the cap site)
Class non disease-causing
WT sequence TTATCGCTAAAACACTCCAAAGCCT T CCTTAAAAATGCGCACTGGGCTAAA
Mutant sequence TTATCGCTAAAACACTCCAAAGCCT G CCTTAAAAATGCGCACTGGGCTAAA

Other databases:

Not found		dbSNP
rs4148682








Pathogenicity predictors:

Not found
Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 8
CF 1
CFTR-RD7
  • Bronchiectasis  1
  • CBAVD  2
  • Other  3
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 4777heterozygoteCF-causing- Undef
VUS3- Undef
Other 1089heterozygotevarying clinical consequence- Undef
Other 1184heterozygotevarying clinical consequence- Undef
CFTR-RD-causing- Undef
Pancreatitis 4789heterozygoteCF-causing- Undef
varying clinical consequence- Undef
Bronchiectasis 1110heterozygotelikely CFTR-RD- Undef
CF 1137heterozygoteCF-causing - Cis
CF-causing - Trans
CBAVD 1177heterozygotevarying clinical consequence- Undef
CBAVD 1352heterozygotevarying clinical consequence - Trans


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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