Variant NM_000492.4:c.3083T>G


Variant details:
Name NM_000492.4:c.3083T>G
Protein name NP_000483.3:p.(Met1028Arg)
Genomic name (hg19) chr7:g.117250667T>G    UCSC    gnomAD
#Exon/intron exon 19
Legacy Name M1028R
Class VUS
Subclass VUS1
WT sequence GTGCCAGTGATAGTGGCTTTTATTA T GTTGAGAGCATATTTCCTCCAAACC
Mutant sequence GTGCCAGTGATAGTGGCTTTTATTA G GTTGAGAGCATATTTCCTCCAAACC


External sources:

Not found		dbSNP
rs397508494






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.7485 0.12 0.029
VUS1 VUS1 VUS2 VUS1

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CFTR-RD4
  • CBAVD  2
  • Other  2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 4740heterozygoteCF-causing- Undef
CBAVD 550heterozygoteCF-causing- Undef
Other 4770heterozygoteCF-causing - Trans
Other 4792heterozygoteCF-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.