NM_018941.4(CLN8):c.92G>A (p.Gly31Asp) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 23, 2017
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:: RCV000623561.2

Allele description [Variation Report for NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)]

NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)

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.92G>A (p.Gly31Asp)

HGVS:

NC_000008.11:g.1771146G>A
NG_008656.2:g.20369G>A
NM_018941.4:c.92G>AMANE SELECT
NP_061764.2:p.Gly31Asp
NP_061764.2:p.Gly31Asp
LRG_691t1:c.92G>A
LRG_691:g.20369G>A
LRG_691p1:p.Gly31Asp
NC_000008.10:g.1719312G>A
NM_018941.3:c.92G>A

Protein change:

G31D

Links:

dbSNP: rs1366421988

NCBI 1000 Genomes Browser:

rs1366421988

Molecular consequence:

NM_018941.4:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742816	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Aug 23, 2017)	germline	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

SCV000742816

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Aug 23, 2017)

germline

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
Hispanic/Mexican	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.

Nat Genet. 1999 Oct;23(2):233-6.

PubMed [citation]

PMID:: 10508524

Details of each submission

From Ambry Genetics, SCV000742816.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic/Mexican	1	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	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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