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.713_720del (p.Thr238fs)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jun 15, 2017
Accession:
VCV000552578.1
Variation ID:
552578
Description:
8bp deletion
Help

NM_006493.4(CLN5):c.713_720del (p.Thr238fs)

Allele ID
547426
Variant type
Deletion
Variant length
8 bp
Cytogenetic location
13q22.3
Genomic location
13: 77574740-77574747 (GRCh37) GRCh37 UCSC
13: 77000605-77000612 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_692t1:c.860_867del
LRG_692:g.13682_13689del
NC_000013.10:g.77574740_77574747del
... more HGVS
Protein change
T238fs
Other names
-
Canonical SPDI
NC_000013.11:77000604:CCTTTAAC:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555274344
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 Jun 15, 2017 RCV000667867.1
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
FBXL3 - - GRCh38
GRCh37
5 309

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Jun 15, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 5
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000792379.1
Submitted: (Jul 10, 2018)

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 rs1555274344...

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