NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) AND Neuronal ceroid lipofuscinosis 5

Clinical significance:Likely pathogenic (Last evaluated: Apr 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411598.1

Allele description [Variation Report for NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)]

NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)

Genes:
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
HGVS:
  • NC_000013.11:g.77000850C>T
  • NG_009064.1:g.13927C>T
  • NM_001366624.2:c.*407C>T
  • NM_006493.4:c.958C>TMANE SELECT
  • NP_006484.2:p.Gln320Ter
  • LRG_692t1:c.1105C>T
  • LRG_692:g.13927C>T
  • NC_000013.10:g.77574985C>T
  • NM_006493.2:c.1105C>T
Protein change:
Q320*
Links:
dbSNP: rs750935331
NCBI 1000 Genomes Browser:
rs750935331
Molecular consequence:
  • NM_001366624.2:c.*407C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006493.4:c.958C>T - 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
SCV000486163Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 7, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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