Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000492.3(CFTR):c.1518C>G (p.Ile506Met)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 15, 2019
Accession:
VCV000053278.2
Variation ID:
53278
Description:
single nucleotide variant
Help

NM_000492.3(CFTR):c.1518C>G (p.Ile506Met)

Allele ID
67946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117559589 (GRCh38) GRCh38 UCSC
7: 117199643 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117199643C>G
NC_000007.14:g.117559589C>G
NM_000492.3:c.1518C>G NP_000483.3:p.Ile506Met missense
... more HGVS
Protein change
I506M
Other names
-
Canonical SPDI
NC_000007.14:117559588:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
-
Links
ClinGen: CA326525
UniProtKB: P13569#VAR_009901
dbSNP: rs1800092
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jul 15, 2019 RCV000046332.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1956 2703
CFTR-AS1 - - - GRCh38 - 283

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 15, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001535098.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces isoleucine with methionine at codon 506 of the CFTR protein (p.Ile506Met). The isoleucine residue is highly conserved and there is a … (more)
Pathogenic
(Oct 19, 2015)
no assertion criteria provided
Method: clinical testing
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: unknown
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV000256831.1
Submitted: (Nov 16, 2015)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
A haplotype framework for cystic fibrosis mutations in Iran. Elahi E The Journal of molecular diagnostics : JMD 2006 PMID: 16436643
Mutation analysis in 600 French cystic fibrosis patients. Chevalier-Porst F Journal of medical genetics 1994 PMID: 7525963
Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent. Deufel A Human mutation 1994 PMID: 7509683

Text-mined citations for rs1800092...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021