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NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
May 23, 2018
Accession:
VCV000558456.1
Variation ID:
558456
Description:
1bp deletion
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NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)

Allele ID
547428
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
13q22.3
Genomic location
13: 77000808 (GRCh38) GRCh38 UCSC
13: 77574943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692t1:c.1064del
LRG_692:g.13886del
NC_000013.10:g.77574944del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:77000807:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555274373
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 criteria provided, single submitter May 23, 2018 RCV000674729.1
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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
145 449
FBXL3 - - GRCh38
GRCh37
5 309

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(May 23, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000800120.1
Submitted: (Jul 10, 2018)
Publications:
PubMed (1)
PubMed: 24038957

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
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. Larkin H Human mutation 2013 PMID: 24038957

Text-mined citations for rs1555274373...

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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