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NM_001042432.2(CLN3):c.963-63_963-44dup AND Neuronal ceroid lipofuscinosis 3

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 6, 2018
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:
RCV000673927.1

Allele description [Variation Report for NM_001042432.2(CLN3):c.963-63_963-44dup]

NM_001042432.2(CLN3):c.963-63_963-44dup

Gene:
CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
NM_001042432.2(CLN3):c.963-63_963-44dup
HGVS:
  • NC_000016.10:g.28482244_28482263dup
  • NG_008654.2:g.15042_15061dup
  • NM_000086.2:c.963-63_963-44dup
  • NM_001042432.2:c.963-63_963-44dupMANE SELECT
  • NM_001286104.2:c.891-63_891-44dup
  • NM_001286105.2:c.663-63_663-44dup
  • NM_001286109.2:c.729-63_729-44dup
  • NM_001286110.2:c.801-63_801-44dup
  • LRG_689t1:c.963-63_963-44dup
  • LRG_689:g.15042_15061dup
  • NC_000016.9:g.28493565_28493584dup
Links:
dbSNP: rs1555468153
NCBI 1000 Genomes Browser:
rs1555468153
Molecular consequence:
  • NM_000086.2:c.963-63_963-44dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042432.2:c.963-63_963-44dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286104.2:c.891-63_891-44dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286105.2:c.663-63_663-44dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286109.2:c.729-63_729-44dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286110.2:c.801-63_801-44dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 3 (CLN3)
Synonyms:
Spielmeyer Sjogren disease; CLN3 Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0008767; MedGen: C0751383; Orphanet: 228346; OMIM: 204200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000799184Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely benign
(Apr 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, SCV000799184.1

#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: Feb 18, 2023