Variant NM_000492.4:c.3897A>G


Variant details:
Name NM_000492.4:c.3897A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117292919A>G    UCSC    
#Exon/intron exon 24
Legacy Name T1299T (4029A/G)
Class non disease-causing
WT sequence AGAAAGTATTTATTTTTTCTGGAAC A TTTAGAAAAAACTTGGATCCCTATG
Mutant sequence AGAAAGTATTTATTTTTTCTGGAAC G TTTAGAAAAAACTTGGATCCCTATG

Other databases:

Not found		dbSNP
rs1800131







Pathogenicity predictors:

Not found





No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 12
Asymptomatic compound heterozygote 1
CF 6
CFTR-RD5
  • CBAVD  3
  • Other  1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 363heterozygoteCF-causing - Cis
CF-causing - Trans
CF 1577heterozygoteCF-causing- Undef
CF-causing- Undef
CF 1551heterozygoteCF-causing - Cis
varying clinical consequence - Trans
CF 631heterozygoteCF-causing- Undef
CF-causing- Undef
CF 371heterozygoteCF-causing - Cis
CF-causing - Trans
CF 3205heterozygoteCF-causing- Undef
CF-causing- Undef
VUS3- Undef
Asymptomatic compound heterozygote 372heterozygoteCF-causing - Cis
VUS1 - Trans
CBAVD 5015heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
CBAVD 481heterozygotevarying clinical consequence- Undef
CF-causing- Undef
CBAVD 424heterozygoteVUS3- Undef
CF-causing- Undef
Other 1277heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing - Trans
Pancreatitis 2417heterozygoteCFTR-RD-causing- 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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