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NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del) AND Neuronal ceroid lipofuscinosis 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 2017
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:
RCV000665327.1

Allele description [Variation Report for NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)]

NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)

Gene:
CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)
HGVS:
  • NC_000016.10:g.28484064TTC[2]
  • NG_008654.2:g.13232AAG[2]
  • NM_000086.2:c.725AAG[2]
  • NM_001042432.2:c.725AAG[2]MANE SELECT
  • NM_001286104.2:c.653AAG[2]
  • NM_001286105.2:c.425AAG[2]
  • NM_001286109.2:c.491AAG[2]
  • NM_001286110.2:c.563AAG[2]
  • NP_000077.1:p.Glu244del
  • NP_001035897.1:p.Glu244del
  • NP_001273033.1:p.Glu220del
  • NP_001273034.1:p.Glu144del
  • NP_001273038.1:p.Glu166del
  • NP_001273039.1:p.Glu190del
  • LRG_689t1:c.725AAG[2]
  • LRG_689:g.13232AAG[2]
  • LRG_689p1:p.Glu244del
  • NC_000016.9:g.28495385TTC[2]
  • NM_001042432.1:c.731_733delAAG
  • p.E244del
Protein change:
E144del
Links:
dbSNP: rs796052340
NCBI 1000 Genomes Browser:
rs796052340
Molecular consequence:
  • NM_000086.2:c.725AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042432.2:c.725AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286104.2:c.653AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286105.2:c.425AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286109.2:c.491AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286110.2:c.563AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000789429Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Jan 31, 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, SCV000789429.1

#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