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NM_006493.4(CLN5):c.340-1del AND Neuronal ceroid lipofuscinosis 5

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 7, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000409719.2

Allele description [Variation Report for NM_006493.4(CLN5):c.340-1del]

NM_006493.4(CLN5):c.340-1del

Gene:
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_006493.4(CLN5):c.340-1del
HGVS:
  • NC_000013.11:g.76995901del
  • NG_009064.1:g.8978del
  • NM_001366624.2:c.340-1del
  • NM_006493.4:c.340-1delMANE SELECT
  • LRG_692t1:c.487-1del
  • LRG_692:g.8978del
  • NC_000013.10:g.77570036del
  • NM_006493.2:c.487-1delG
Links:
dbSNP: rs1057516390
NCBI 1000 Genomes Browser:
rs1057516390
Molecular consequence:
  • NM_001366624.2:c.340-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_006493.4:c.340-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485580Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jan 7, 2016) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485580.2

#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: Sep 29, 2024