Updates for c.3285A>T:
2015-07-17 class changed from non-disease-causing to unclassified




Variant NM_000492.4:c.3285A>T


Variant details:
Name NM_000492.4:c.3285A>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117251780A>T    UCSC    
Genomic name (hg38) chr7:g.117611726A>T    UCSC
#Exon/intron exon 20
Legacy Name T1095T (3417A/T)
Class VUS
WT sequence CCAACTGGTTCTTGTACCTGTCAAC A CTGCGCTGGTTCCAAATGAGAATAG
Mutant sequence CCAACTGGTTCTTGTACCTGTCAAC T CTGCGCTGGTTCCAAATGAGAATAG

Other databases:

Not found		dbSNP
rs1800118







Pathogenicity predictors:

Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 10
Asymptomatic compound heterozygote 2
CF 3
CFTR-RD4
  • Bronchiectasis  2
  • Pancreatitis  2
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 204heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3205heterozygoteCF-causing- Undef
CF-causing- Undef
CF 3142heterozygoteCF-causing- Undef
CF-causing- Undef
Bronchiectasis 2373heterozygote
Bronchiectasis 921heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 5279heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 5133heterozygote
Pending (NBS) 1253heterozygoteCFTR-RD-causing- Undef
CF-causing- Undef
Pancreatitis 3060heterozygoteCFTR-RD-causing- Undef
Pancreatitis 5155heterozygoteVUS3- Undef


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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