Updates for c.1516A>G:
2024-10-14 Class updated from VUS4 to non disease-causing
2024-12-09 Variant classified as non-disease-causing on the basis of epidemiological data (in particular high frequency in the general population), the number and type of diagnosis for patients reported in CFTR-France and functional data




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    
Genomic name (hg38) chr7:g.117559587A>G    UCSC
#Exon/intron exon 11
Legacy Name I506V (1648A/G)
Class non disease-causing
WT sequence TATGCCTGGCACCATTAAAGAAAAT A TCATCTTTGGTGTTTCCTATGATGA
Mutant sequence TATGCCTGGCACCATTAAAGAAAAT G TCATCTTTGGTGTTTCCTATGATGA

Other databases:

Not found		dbSNP
rs1800091



Pathogenicity predictors:




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




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

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


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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.



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