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NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 19, 2013)
Accession:
VCV000056545.1
Variation ID:
56545
Description:
single nucleotide variant
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NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)

Allele ID
71184
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q22.3
Genomic location
13: 77000517 (GRCh38) GRCh38 UCSC
13: 77574652 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692:g.13594T>G
LRG_692t1:c.772T>G
NC_000013.10:g.77574652T>G
... more HGVS
Protein change
Y209D
Other names
-
Canonical SPDI
NC_000013.11:77000516:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA263914
dbSNP: rs386833981
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000049958.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN5 - - GRCh38
GRCh37
145 450
FBXL3 - - GRCh38
GRCh37
5 310

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Ceroid lipofuscinosis neuronal 5
Affected status: not provided
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082367.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

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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

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Title Author Journal Year Link
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Kousi M Human mutation 2012 PMID: 21990111

Text-mined citations for rs386833981...

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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