NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) AND Neuronal ceroid lipofuscinosis 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 29, 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:: RCV000669036.1

Allele description [Variation Report for NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)]

NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)

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.553_561del (p.Ala185_Ile187del)

HGVS:

NC_000013.11:g.76996115_76996123del
NG_009064.1:g.9192_9200del
NM_001366624.2:c.553_561del
NM_006493.4:c.553_561delMANE SELECT
NP_001353553.1:p.Ala185_Ile187del
NP_006484.2:p.Ala185_Ile187del
LRG_692t1:c.700_708del
LRG_692t1:c.700_708del9
LRG_692:g.9192_9200del
NC_000013.10:g.77570250_77570258del
NM_006493.2:c.700_708del9

Links:

dbSNP: rs1555274012

NCBI 1000 Genomes Browser:

rs1555274012

Molecular consequence:

NM_001366624.2:c.553_561del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006493.4:c.553_561del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000793734	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Aug 29, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793734

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Aug 29, 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, SCV000793734.1

#	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: Apr 23, 2022

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