Variant NM_000492.4:c.2813T>G


Variant details:
Name NM_000492.4:c.2813T>G
Protein name NP_000483.3:p.(Val938Gly)
Genomic name (hg19) chr7:g.117243741T>G    UCSC    gnomAD
#Exon/intron exon 17
Legacy Name V938G
Class disease-causing
Subclass CFTR-RD-causing
WT sequence GGATTCTTCAGAGGTCTACCACTGG T GCATACTCTAATCACAGTGTCGAAA
Mutant sequence GGATTCTTCAGAGGTCTACCACTGG G GCATACTCTAATCACAGTGTCGAAA


External sources:

Not found		dbSNP
rs193922511






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 7e-05 0.08 0.999
VUS1 VUS5 VUS4 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 8
CFTR-RD8
  • CBAVD  7
  • CRS-NP  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 1476heterozygoteCF-causing - Trans
CBAVD 5093heterozygoteCF-causing- Undef
CBAVD 2743heterozygoteCF-causing - Trans
CBAVD 2918heterozygoteCF-causing - Trans
CBAVD 3392heterozygoteCF-causing- Undef
CBAVD 5346heterozygoteCF-causing- Undef
CBAVD 5944heterozygoteCF-causing- Undef
CRS-NP 2917heterozygoteCF-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.