Variant NM_000492.4:c.1516A>G


Variant details:
Name NM_000492.4:c.1516A>G
Protein name NP_000483.3:p.(Ile506Val)
Genomic name (hg19) chr7:g.117199641A>G    UCSC    gnomAD
#Exon/intron exon 11
Legacy Name I506V (1648A/G)
Class VUS
Subclass VUS4
WT sequence TATGCCTGGCACCATTAAAGAAAAT A TCATCTTTGGTGTTTCCTATGATGA
Mutant sequence TATGCCTGGCACCATTAAAGAAAAT G TCATCTTTGGTGTTTCCTATGATGA


External sources:

Not found		dbSNP
rs1800091






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C25 0.0074 0 0.993
VUS2 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 1
CFTR-RD3
  • Bronchiectasis  1
  • Pancreatitis  2
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 38heterozygoteVUS4 - Cis
varying clinical consequence - Trans
Bronchiectasis 5076heterozygoteVUS3- Undef
Pending (NBS) 598heterozygoteCF-causing - Trans
Pancreatitis 4975heterozygoteVUS3- Undef
Pancreatitis 2528heterozygote


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.