NM_000086.2(CLN3):c.223-1G>A AND Juvenile neuronal ceroid lipofuscinosis

Clinical significance:Likely pathogenic (Last evaluated: Jun 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667804.1

Allele description [Variation Report for NM_000086.2(CLN3):c.223-1G>A]

NM_000086.2(CLN3):c.223-1G>A

Gene:
CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
NM_000086.2(CLN3):c.223-1G>A
HGVS:
  • NC_000016.10:g.28488663C>T
  • NG_008654.2:g.8640G>A
  • NM_000086.2:c.223-1G>A
  • NM_001042432.1:c.223-1G>A
  • NM_001286104.2:c.222+627G>A
  • NM_001286105.2:c.3-1G>A
  • NM_001286109.2:c.60+627G>A
  • NM_001286110.2:c.61-1G>A
  • LRG_689t1:c.223-1G>A
  • LRG_689t2:c.223-1G>A
  • LRG_689:g.8640G>A
  • NC_000016.9:g.28499984C>T
Links:
dbSNP: rs1555469089
NCBI 1000 Genomes Browser:
rs1555469089
Molecular consequence:
  • NM_001286104.2:c.222+627G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286109.2:c.60+627G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000086.2:c.223-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042432.1:c.223-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286105.2:c.3-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001286110.2:c.61-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Juvenile neuronal ceroid lipofuscinosis (CLN3)
Synonyms:
CLN3 Disease; Neuronal Ceroid-Lipofuscinoses; CLN3-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MedGen: C0751383; Orphanet: 228346; Orphanet: 79264; OMIM: 204200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792308Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 20, 2017)
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, SCV000792308.1

#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: Jan 14, 2020

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