NM_018941.3(CLN8):c.[212C>T];[562_563delCT] AND Neuronal ceroid lipofuscinosis 8

Clinical significance:Likely pathogenic (Last evaluated: Sep 18, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197221.1

Allele description [Variation Report for NM_018941.3(CLN8):c.[212C>T];[562_563delCT]]

NM_018941.4(CLN8):c.562_563del (p.Leu188fs)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
HGVS:
  • NC_000008.11:g.1780266CT[1]
  • NG_008656.2:g.29489CT[1]
  • NM_018941.4:c.562_563delMANE SELECT
  • NP_061764.2:p.Leu188fs
  • LRG_691:g.29489CT[1]
  • NC_000008.10:g.1728431_1728432del
  • NC_000008.10:g.1728432CT[1]
  • NM_018941.3:c.562_563delCT
Protein change:
L188fs
Links:
dbSNP: rs386834132
NCBI 1000 Genomes Browser:
rs386834132
Molecular consequence:
  • NM_018941.4:c.562_563del - frameshift variant - [Sequence Ontology: SO:0001589]

NM_018941.4(CLN8):c.212C>T (p.Ala71Val)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.212C>T (p.Ala71Val)
HGVS:
  • NC_000008.11:g.1771266C>T
  • NG_008656.2:g.20489C>T
  • NM_018941.4:c.212C>TMANE SELECT
  • NP_061764.2:p.Ala71Val
  • NP_061764.2:p.Ala71Val
  • LRG_691t1:c.212C>T
  • LRG_691:g.20489C>T
  • LRG_691p1:p.Ala71Val
  • NC_000008.10:g.1719432C>T
  • NM_018941.3:c.212C>T
Protein change:
A71V
Links:
dbSNP: rs863224859
NCBI 1000 Genomes Browser:
rs863224859
Molecular consequence:
  • NM_018941.4:c.212C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 8 (CLN8)
Synonyms:
Northern epilepsy; CLN8-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0010830; MedGen: C1838570; Orphanet: 168491; Orphanet: 228354; Orphanet: 79264; OMIM: 600143

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255345UCLA Clinical Genomics Center, UCLA - CEScriteria provided, single submitter
Likely pathogenic
(Sep 18, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasiangermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255345.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasiannot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 12, 2022

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