Variant NM_000492.4:c.1043T>A


Variant details:
Name NM_000492.4:c.1043T>A
Protein name NP_000483.3:p.(Met348Lys)
Genomic name (hg19) chr7:g.117180327T>A    UCSC    gnomAD
#Exon/intron exon 8
Legacy Name M348K
Class VUS
Subclass VUS3
WT sequence ATCTCATTCTGCATTGTTCTGCGCA T GGCGGTCACTCGGCAATTTCCCTGG
Mutant sequence ATCTCATTCTGCATTGTTCTGCGCA A GGCGGTCACTCGGCAATTTCCCTGG


External sources:

Not found		dbSNP
rs142920240






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 3e-05 0 0.996
VUS5 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD1
  • Bronchiectasis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 5747heterozygotevarying clinical consequence- Undef
Bronchiectasis 4974heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef
CF 5574heterozygoteVUS3 - Cis
CF-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.