Variant NM_000492.4:c.3409A>G


Variant details:
Name NM_000492.4:c.3409A>G
Protein name NP_000483.3:p.(Met1137Val)
Genomic name (hg19) chr7:g.117254708A>G    UCSC    gnomAD
#Exon/intron exon 21
Legacy Name M1137V
Class VUS
Subclass VUS3
WT sequence AGTTGGTATTATCCTGACTTTAGCC A TGAATATCATGAGTACATTGCAGTG
Mutant sequence AGTTGGTATTATCCTGACTTTAGCC G TGAATATCATGAGTACATTGCAGTG


External sources:

Not found		dbSNP
rs397508553






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 2e-05 0 0.608
VUS1 VUS5 VUS5 VUS4

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
CFTR-RD2
  • Bronchiectasis  1
  • CRS-NP  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CRS-NP 5138heterozygoteCFTR-RD-causing- Undef
Asymptomatic compound heterozygote 5218heterozygoteVUS3 - Cis
VUS2 - Trans
Bronchiectasis 5669heterozygoteCFTR-RD-causing - Trans
CFTR-RD-causing - Trans
CFTR-RD-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.