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NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jun 6, 2018
Accession:
VCV000558707.1
Variation ID:
558707
Description:
8bp duplication
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NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)

Allele ID
547795
Variant type
Duplication
Variant length
8 bp
Cytogenetic location
13q22.3
Genomic location
13: 77000556-77000557 (GRCh38) GRCh38 UCSC
13: 77574691-77574692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692:g.13634_13641dup
LRG_692t1:c.812_819dup
NC_000013.10:g.77574692_77574699dup
... more HGVS
Protein change
W225fs
Other names
-
Canonical SPDI
NC_000013.11:77000556:CAGAGACA:CAGAGACACAGAGACA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555274337
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 Jun 6, 2018 RCV000675014.1
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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
(Jun 06, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000800440.1
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 rs1555274337...

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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 Oct 08, 2021