U.S. flag

An official website of the United States government

NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter) AND Neuronal ceroid lipofuscinosis 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 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:
RCV000672582.1

Allele description [Variation Report for NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)]

NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)

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.681T>A (p.Tyr227Ter)
HGVS:
  • NC_000008.11:g.1780387T>A
  • NG_008656.2:g.29610T>A
  • NM_018941.4:c.681T>AMANE SELECT
  • NP_061764.2:p.Tyr227Ter
  • NP_061764.2:p.Tyr227Ter
  • LRG_691t1:c.681T>A
  • LRG_691:g.29610T>A
  • LRG_691p1:p.Tyr227Ter
  • NC_000008.10:g.1728553T>A
  • NM_018941.3:c.681T>A
Protein change:
Y227*
Links:
dbSNP: rs1554451561
NCBI 1000 Genomes Browser:
rs1554451561
Molecular consequence:
  • NM_018941.4:c.681T>A - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000797697Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Feb 6, 2018) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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, SCV000797697.1

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

Last Updated: Mar 26, 2023