NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) AND Neuronal ceroid lipofuscinosis 5

Clinical significance:Likely pathogenic (Last evaluated: May 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674729.1

Allele description [Variation Report for NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)]

NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)

Genes:
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
HGVS:
  • NC_000013.11:g.77000809del
  • NG_009064.1:g.13886del
  • NM_001366624.2:c.*366del
  • NM_006493.4:c.917delMANE SELECT
  • NP_006484.2:p.Leu305_Leu306insTer
  • LRG_692t1:c.1064del
  • LRG_692:g.13886del
  • NC_000013.10:g.77574944del
  • NM_006493.2:c.1064delT
Links:
dbSNP: rs1555274373
NCBI 1000 Genomes Browser:
rs1555274373
Molecular consequence:
  • NM_001366624.2:c.*366del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006493.4:c.917del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 5 (CLN5)
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009745; MedGen: C1850442; Orphanet: 168491; Orphanet: 228360; OMIM: 256731

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800120Counsylcriteria provided, single submitter
Likely pathogenic
(May 23, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

Larkin H, Ribeiro MG, Lavoie C.

Hum Mutat. 2013 Dec;34(12):1688-97. doi: 10.1002/humu.22443. Epub 2013 Oct 10.

PubMed [citation]
PMID:
24038957

Details of each submission

From Counsyl, SCV000800120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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