NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) AND Neuronal ceroid lipofuscinosis 3

Clinical significance:Likely pathogenic (Last evaluated: Oct 16, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000049655.2

Allele description [Variation Report for NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)]

NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)

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_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
HGVS:
  • NC_000016.10:g.28482161G>A
  • NG_008654.2:g.15142C>T
  • NM_000086.2:c.1000C>T
  • NM_001042432.2:c.1000C>TMANE SELECT
  • NM_001286104.2:c.928C>T
  • NM_001286105.2:c.700C>T
  • NM_001286109.2:c.766C>T
  • NM_001286110.2:c.838C>T
  • NP_000077.1:p.Arg334Cys
  • NP_001035897.1:p.Arg334Cys
  • NP_001035897.1:p.Arg334Cys
  • NP_001273033.1:p.Arg310Cys
  • NP_001273034.1:p.Arg234Cys
  • NP_001273038.1:p.Arg256Cys
  • NP_001273039.1:p.Arg280Cys
  • LRG_689t1:c.1000C>T
  • LRG_689t2:c.1000C>T
  • LRG_689:g.15142C>T
  • LRG_689p1:p.Arg334Cys
  • LRG_689p2:p.Arg334Cys
  • NC_000016.9:g.28493482G>A
  • NM_001042432.1:c.1000C>T
  • Q13286:p.Arg334Cys
Protein change:
R234C
Links:
UniProtKB: Q13286#VAR_005135; dbSNP: rs386833694
NCBI 1000 Genomes Browser:
rs386833694
Molecular consequence:
  • NM_000086.2:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042432.2:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286104.2:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286105.2:c.700C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286109.2:c.766C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286110.2:c.838C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000082062Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

PubMed (1)
[See all records that cite this PMID]

SCV001132155Counsylno assertion criteria providedLikely pathogenic
(Oct 16, 2018)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082062

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

Haines RL, Codlin S, Mole SE.

Dis Model Mech. 2009 Jan-Feb;2(1-2):84-92. doi: 10.1242/dmm.000851. Epub 2008 Dec 22.

PubMed [citation]
PMID:
19132115
PMCID:
PMC2615160

A yeast model for the study of Batten disease.

Pearce DA, Sherman F.

Proc Natl Acad Sci U S A. 1998 Jun 9;95(12):6915-8.

PubMed [citation]
PMID:
9618513
PMCID:
PMC22684
See all PubMed Citations (6)

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082062.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Counsyl, SCV001132155.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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