NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 27, 2013
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:: RCV000187106.2

Allele description [Variation Report for NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)]

NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)

Gene:

CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)

Other names:

p.D256G:GAC>GGC

HGVS:

NC_000015.10:g.68208309T>C
NG_008764.2:g.53903A>G
NM_017882.3:c.767A>GMANE SELECT
NP_060352.1:p.Asp256Gly
LRG_832t1:c.767A>G
LRG_832:g.53903A>G
LRG_832p1:p.Asp256Gly
NC_000015.9:g.68500647T>C
NM_017882.2:c.767A>G

Protein change:

D256G

Links:

dbSNP: rs143781303

NCBI 1000 Genomes Browser:

rs143781303

Molecular consequence:

NM_017882.3:c.767A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240681	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 27, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240681

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 27, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000240681.10

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

Description

p.Asp256Gly (GAC>GGC): c.767 A>G in exon 7 of the CLN6 gene (NM_017882.2)The Asp256Gly missense change was previously reported as a homozygous mutation in multiple individuals from the same family with teenage-onset progressive myoclonic epilepsy (Andrade et al., 2012). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a negatively charged Aspartic acid residue is replaced by an uncharged, non-polar Glycine residue. It alters a conserved position in the cytoplasmic loop between the sixth and seventh transmembrane domains of the protein, and other missense mutations have been reported in this region of the protein. The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 29, 2024

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