NM_006493.4(CLN5):c.155_167del (p.His52fs) AND Neuronal ceroid lipofuscinosis 5

Clinical significance:Likely pathogenic (Last evaluated: Aug 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410399.1

Allele description [Variation Report for NM_006493.4(CLN5):c.155_167del (p.His52fs)]

NM_006493.4(CLN5):c.155_167del (p.His52fs)

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.155_167del (p.His52fs)
HGVS:
  • NC_000013.11:g.76992253_76992265del
  • NG_009064.1:g.5330_5342del
  • NM_001366624.2:c.155_167del
  • NM_006493.4:c.155_167delMANE SELECT
  • NP_001353553.1:p.His52fs
  • NP_006484.2:p.His52fs
  • LRG_692t1:c.302_314del
  • LRG_692:g.5330_5342del
  • NC_000013.10:g.77566388_77566400del
Protein change:
H52fs
Links:
dbSNP: rs1057517134
NCBI 1000 Genomes Browser:
rs1057517134
Molecular consequence:
  • NM_001366624.2:c.155_167del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006493.4:c.155_167del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486800Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 9, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000486800.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center