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_006493.4(CLN5):c.84G>A (p.Trp28Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 5, 2019)
Last evaluated:
Aug 23, 2017
Accession:
VCV000451600.3
Variation ID:
451600
Description:
single nucleotide variant
Help

NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)

Allele ID
445158
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q22.3
Genomic location
13: 76992182 (GRCh38) GRCh38 UCSC
13: 77566317 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692:g.5259G>A
NC_000013.10:g.77566317G>A
NC_000013.11:g.76992182G>A
... more HGVS
Protein change
W28*
Other names
-
Canonical SPDI
NC_000013.11:76992181:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA7007121
dbSNP: rs200348035
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 23, 2017 RCV000521345.1
Likely pathogenic 1 no assertion criteria provided Jun 23, 2015 RCV000984156.1
Help
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

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000620322.1
Submitted: (Jan 29, 2019)
Comment:
A variant that is likely pathogenic has been identified in the CLN5 gene. The W77X nonsense variant has not been published as a pathogenic variant, … (more)
Likely pathogenic
(Jun 23, 2015)
no assertion criteria provided
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV001132157.1
Submitted: (Aug 05, 2019)

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 rs200348035...

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