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_017882.3(CLN6):c.*393G>A

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000886012.1
Variation ID:
886012
Description:
single nucleotide variant
Help

NM_017882.3(CLN6):c.*393G>A

Allele ID
874047
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68207747 (GRCh38) GRCh38 UCSC
15: 68500085 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68207747C>T
NC_000015.9:g.68500085C>T
NG_008764.2:g.54465G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:68207746:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00639 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00542
Trans-Omics for Precision Medicine (TOPMed) 0.00582
The Genome Aggregation Database (gnomAD) 0.00546
1000 Genomes Project 0.00639
Links
dbSNP: rs114833125
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001117960.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN6 - - GRCh38
GRCh37
447 462

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001276206.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs114833125...

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 Nov 27, 2021