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NM_006493.4(CLN5):c.565+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Oct 27, 2017
Accession:
VCV000554629.1
Variation ID:
554629
Description:
single nucleotide variant
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NM_006493.4(CLN5):c.565+1G>A

Allele ID
547777
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q22.3
Genomic location
13: 76996128 (GRCh38) GRCh38 UCSC
13: 77570263 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692:g.9205G>A
LRG_692t1:c.712+1G>A
NC_000013.10:g.77570263G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:76996127:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555274014
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 Oct 27, 2017 RCV000670302.1
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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
Likely pathogenic
(Oct 27, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000795137.1
Submitted: (Jul 10, 2018)

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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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 rs1555274014...

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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