NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) AND Neuronal ceroid lipofuscinosis 5

Clinical significance:Likely pathogenic (Last evaluated: Jun 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675014.1

Allele description [Variation Report for NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)]

NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)

Genes:
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)
HGVS:
  • NC_000013.11:g.77000557_77000564dup
  • NG_009064.1:g.13634_13641dup
  • NM_001366624.2:c.*114_*121dup
  • NM_006493.4:c.665_672dupMANE SELECT
  • NP_006484.2:p.Trp225fs
  • LRG_692t1:c.812_819dup
  • LRG_692:g.13634_13641dup
  • NC_000013.10:g.77574692_77574699dup
Protein change:
W225fs
Links:
dbSNP: rs1555274337
NCBI 1000 Genomes Browser:
rs1555274337
Molecular consequence:
  • NM_001366624.2:c.*114_*121dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006493.4:c.665_672dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000800440Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 6, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000800440.1

#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: Oct 7, 2021

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