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.155_167del (p.His52fs)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Aug 9, 2016
Accession:
VCV000371261.1
Variation ID:
371261
Description:
13bp deletion
Help

NM_006493.4(CLN5):c.155_167del (p.His52fs)

Allele ID
358246
Variant type
Deletion
Variant length
13 bp
Cytogenetic location
13q22.3
Genomic location
13: 76992250-76992262 (GRCh38) GRCh38 UCSC
13: 77566385-77566397 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692:g.5330_5342del
NC_000013.10:g.77566388_77566400del
NC_000013.11:g.76992253_76992265del
... more HGVS
Protein change
H52fs
Other names
-
Canonical SPDI
NC_000013.11:76992249:GCCACTGGCCGGTGCC:GCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041686
dbSNP: rs1057517134
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 9, 2016 RCV000410399.1
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 09, 2016)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000486800.1
Submitted: (Nov 23, 2016)

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 rs1057517134...

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 Oct 08, 2021