NM_006493.4(CLN5):c.-7C>A AND Neuronal ceroid lipofuscinosis 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 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:: RCV000667197.1

Allele description [Variation Report for NM_006493.4(CLN5):c.-7C>A]

NM_006493.4(CLN5):c.-7C>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q22.3

Genomic location:

Preferred name:

NM_006493.4(CLN5):c.-7C>A

HGVS:

NC_000013.11:g.76992092C>A
NG_009064.1:g.5169C>A
NM_001366624.2:c.-7C>A
NM_006493.4:c.-7C>AMANE SELECT
LRG_692t1:c.141C>A
LRG_692:g.5169C>A
NC_000013.10:g.77566227C>A
NM_006493.2:c.141C>A

Links:

dbSNP: rs1555273557

NCBI 1000 Genomes Browser:

rs1555273557

Molecular consequence:

NM_001366624.2:c.-7C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_006493.4:c.-7C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000791615	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 22, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11971870, 15207259, 12134079, 20052765 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791615

Counsyl

criteria provided, single submitter

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

Uncertain significance
(May 22, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Nothing to display

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000791615.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Apr 23, 2022

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