NM_018941.4(CLN8):c.411C>G (p.Ile137Met) AND Neuronal ceroid lipofuscinosis 8

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 6, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001832430.1

Allele description [Variation Report for NM_018941.4(CLN8):c.411C>G (p.Ile137Met)]

NM_018941.4(CLN8):c.411C>G (p.Ile137Met)

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.411C>G (p.Ile137Met)

HGVS:

NC_000008.11:g.1771465C>G
NG_008656.2:g.20688C>G
NM_018941.4:c.411C>GMANE SELECT
NP_061764.2:p.Ile137Met
LRG_691t1:c.411C>G
LRG_691:g.20688C>G
NC_000008.10:g.1719631C>G
NC_000008.10:g.1719631C>G
NM_018941.3:c.411C>G

Protein change:

I137M

Links:

dbSNP: rs147224140

NCBI 1000 Genomes Browser:

rs147224140

Molecular consequence:

NM_018941.4:c.411C>G - missense variant - [Sequence Ontology: SO:0001583]

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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Cytochromes b5
Cytochromes b5
Cytochromes of the b group that are found bound to cytoplasmic side of ENDOPLASMIC RETICULUM. They serve as electron carrier proteins for a variety of membrane-bound OXYGENASE...<br/>Year introduced: 2004(1990)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002083174	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 6, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083174

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 6, 2021)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002083174.1

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

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

Last Updated: Sep 29, 2024

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