NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) AND Neuronal ceroid lipofuscinosis 3

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Aug 10, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000049702.2

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

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

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.883G>T (p.Glu295Ter)
HGVS:
  • 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:
E195*
Links:
dbSNP: rs121434286
NCBI 1000 Genomes Browser:
rs121434286
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]

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
SCV000082109Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

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

SCV000793104Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 27, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001977443Nilou-Genome Labcriteria provided, single submitter
Pathogenic
(Aug 10, 2021)
germlineclinical testing

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

Description

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

SCV000082109

Summary from all submissions

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

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PubMed [citation]
PMID:
21990111
See all PubMed Citations (3)

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082109.1

#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, SCV000793104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001977443.1

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

Last Updated: Dec 4, 2021

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