Variant NM_000492.4:c.2978A>G


Variant details:
Name NM_000492.4:c.2978A>G
Protein name NP_000483.3:p.(Asp993Gly)
Genomic name (hg19) chr7:g.117246797A>G    UCSC    gnomAD
#Exon/intron exon 18
Legacy Name D993G
Class VUS
WT sequence GACCTTCTGCCTCTTACCATATTTG A CTTCATCCAGGTATGTAAAAATAAG
Mutant sequence GACCTTCTGCCTCTTACCATATTTG G CTTCATCCAGGTATGTAAAAATAAG


External sources:

Not found		dbSNP
rs777904861






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0.01 0.999
no class no class VUS5 VUS5

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



No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            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.