NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)]

NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)

CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
  • NC_000016.10:g.28482500C>A
  • NG_008654.2:g.14803G>T
  • NM_000086.2:c.883G>T
  • NM_001042432.2:c.883G>TMANE SELECT
  • NM_001286104.2:c.811G>T
  • NM_001286105.2:c.583G>T
  • NM_001286109.2:c.649G>T
  • NM_001286110.2:c.721G>T
  • NP_000077.1:p.Glu295Ter
  • NP_001035897.1:p.Glu295Ter
  • NP_001035897.1:p.Glu295Ter
  • NP_001273033.1:p.Glu271Ter
  • NP_001273034.1:p.Glu195Ter
  • NP_001273038.1:p.Glu217Ter
  • NP_001273039.1:p.Glu241Ter
  • LRG_689t1:c.883G>T
  • LRG_689t2:c.883G>T
  • LRG_689:g.14803G>T
  • LRG_689p1:p.Glu295Ter
  • LRG_689p2:p.Glu295Ter
  • NC_000016.9:g.28493821C>A
  • NM_000086.2:c.883G>T
  • NM_001042432.1:c.883G>T
Protein change:
dbSNP: rs121434286
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000086.2:c.883G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042432.2:c.883G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286104.2:c.811G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286105.2:c.583G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286109.2:c.649G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286110.2:c.721G>T - nonsense - [Sequence Ontology: SO:0001587]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001773508GeneDxcriteria provided, single submitter
(Oct 8, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001773508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


Identified in a patient with suspected JNCL who did not have a second identifiable CLN3 variant (Kousi et al., 2012); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21990111, 31741823, 28542676, 31568712, 30769084, 11339651, 25525159, 21228398)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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