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

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gi|1379189|gnl|dbEST|577977|gb|W699

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797697	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 6, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797697

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Feb 6, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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