Variant NM_000492.4:c.2699A>C


Variant details:
Name NM_000492.4:c.2699A>C
Protein name NP_000483.3:p.(Asn900Thr)
Genomic name (hg19) chr7:g.117243627A>C    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name N900T
Class VUS
Subclass VUS1
WT sequence AAAGGGAATAGTACTCATAGTAGAA A TAACAGCTATGCAGTGATTATCACC
Mutant sequence AAAGGGAATAGTACTCATAGTAGAA C TAACAGCTATGCAGTGATTATCACC


External sources:

Not found		dbSNP
no rs






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.392 0.08 0.036
VUS1 VUS1 VUS4 VUS1

Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
Asymptomatic compound heterozygote 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 4522heterozygoteCF-causing - Trans


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.