Variant NM_000492.4:c.3170C>G


Variant details:
Name NM_000492.4:c.3170C>G
Protein name NP_000483.3:p.(Thr1057Arg)
Genomic name (hg19) chr7:g.117251665C>G    UCSC    
#Exon/intron exon 20
Legacy Name T1057R
Class likely pathogenic
Subclass likely CFTR-RD
WT sequence AGTCCAATTTTCACTCATCTTGTTA C AAGCTTAAAAGGACTATGGACACTT
Mutant sequence AGTCCAATTTTCACTCATCTTGTTA G AAGCTTAAAAGGACTATGGACACTT

Other databases:

Not found
Not found		dbSNP
no rs



Pathogenicity predictors:





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CF 1
CFTR-RD3
  • Bronchiectasis  1
  • CBAVD  1
  • Other  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4729heterozygotelikely CFTR-RD - Cis
VUS3 - Trans
Bronchiectasis 1068heterozygotelikely CFTR-RD - Cis
CF-causing - Trans
Other 1069heterozygotelikely CFTR-RD - Cis
CF-causing - Trans
CF 5104heterozygotelikely CFTR-RD - Cis
CF-causing - 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.



Go to CFTRare