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NM_018941.4(CLN8):c.594del (p.His199fs) AND Neuronal ceroid lipofuscinosis 8

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 27, 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:
RCV000671057.1

Allele description [Variation Report for NM_018941.4(CLN8):c.594del (p.His199fs)]

NM_018941.4(CLN8):c.594del (p.His199fs)

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.594del (p.His199fs)
HGVS:
  • NC_000008.11:g.1780300del
  • NG_008656.2:g.29523del
  • NM_018941.4:c.594delMANE SELECT
  • NP_061764.2:p.His199fs
  • LRG_691:g.29523del
  • NC_000008.10:g.1728466del
  • NM_018941.3:c.594delT
Protein change:
H199fs
Links:
dbSNP: rs1554451504
NCBI 1000 Genomes Browser:
rs1554451504
Molecular consequence:
  • NM_018941.4:c.594del - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795997Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Nov 27, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795997.1

#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: Mar 26, 2023