NM_006493.4(CLN5):c.713_720del (p.Thr238fs) AND Neuronal ceroid lipofuscinosis 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 15, 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:: RCV000667867.1

Allele description [Variation Report for NM_006493.4(CLN5):c.713_720del (p.Thr238fs)]

NM_006493.4(CLN5):c.713_720del (p.Thr238fs)

Gene:

CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q22.3

Genomic location:

Preferred name:

NM_006493.4(CLN5):c.713_720del (p.Thr238fs)

HGVS:

NC_000013.11:g.77000605_77000612del
NG_009064.1:g.13682_13689del
NM_001366624.2:c.*162_*169del
NM_006493.4:c.713_720delMANE SELECT
NP_006484.2:p.Thr238fs
LRG_692t1:c.860_867del
LRG_692t1:c.860_867del8
LRG_692:g.13682_13689del
NC_000013.10:g.77574740_77574747del
NM_006493.2:c.860_867del8

Protein change:

T238fs

Links:

dbSNP: rs1555274344

NCBI 1000 Genomes Browser:

rs1555274344

Molecular consequence:

NM_001366624.2:c.*162_*169del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_006493.4:c.713_720del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neuronal ceroid lipofuscinosis 5 (CLN5)
Synonyms:: CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009745; MedGen: C1850442; Orphanet: 168491; Orphanet: 228360; OMIM: 256731

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792379	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 15, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792379

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 15, 2017)

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, SCV000792379.1

#	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: Sep 29, 2024

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