NM_018941.4(CLN8):c.204del (p.Thr69fs) AND Neuronal ceroid lipofuscinosis 8

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 27, 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:: RCV000673003.1

Allele description [Variation Report for NM_018941.4(CLN8):c.204del (p.Thr69fs)]

NM_018941.4(CLN8):c.204del (p.Thr69fs)

Gene:

CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p23.3

Genomic location:

Preferred name:

NM_018941.4(CLN8):c.204del (p.Thr69fs)

HGVS:

NC_000008.11:g.1771258del
NG_008656.2:g.20481del
NM_018941.4:c.204delMANE SELECT
NP_061764.2:p.Thr69fs
LRG_691:g.20481del
NC_000008.10:g.1719424del
NM_018941.3:c.204delC

Protein change:

T69fs

Links:

dbSNP: rs1554449028

NCBI 1000 Genomes Browser:

rs1554449028

Molecular consequence:

NM_018941.4:c.204del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Saccharomyces cerevisiae S288C type 2C protein phosphatase PTC6 (PTC6), partial ...
Saccharomyces cerevisiae S288C type 2C protein phosphatase PTC6 (PTC6), partial mRNA
gi|296143099|ref|NM_001180034.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798167	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 27, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798167

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 27, 2018)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000798167.1

#	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	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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