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NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) AND Neuronal ceroid lipofuscinosis 8

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 6, 2018
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:
RCV000674890.1

Allele description [Variation Report for NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)]

NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)

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.763C>T (p.Gln255Ter)
HGVS:
  • NC_000008.11:g.1780469C>T
  • NG_008656.2:g.29692C>T
  • NM_018941.4:c.763C>TMANE SELECT
  • NP_061764.2:p.Gln255Ter
  • NP_061764.2:p.Gln255Ter
  • LRG_691t1:c.763C>T
  • LRG_691:g.29692C>T
  • LRG_691p1:p.Gln255Ter
  • NC_000008.10:g.1728635C>T
  • NM_018941.3:c.763C>T
Protein change:
Q255*
Links:
dbSNP: rs746397087
NCBI 1000 Genomes Browser:
rs746397087
Molecular consequence:
  • NM_018941.4:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 8 (CLN8)
Synonyms:
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
SCV000800300Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Jun 6, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

CLN8 disease caused by large genomic deletions.

Beesley C, Guerreiro RJ, Bras JT, Williams RE, Taratuto AL, Eltze C, Mole SE.

Mol Genet Genomic Med. 2017 Jan;5(1):85-91. doi: 10.1002/mgg3.263.

PubMed [citation]
PMID:
28116333
PMCID:
PMC5241206

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

Lonka L, Kyttälä A, Ranta S, Jalanko A, Lehesjoki AE.

Hum Mol Genet. 2000 Jul 1;9(11):1691-7.

PubMed [citation]
PMID:
10861296

Details of each submission

From Counsyl, SCV000800300.1

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

Last Updated: Sep 29, 2024