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NM_018941.4(CLN8):c.-123-1G>C AND Neuronal ceroid lipofuscinosis 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV000669108.1

Allele description [Variation Report for NM_018941.4(CLN8):c.-123-1G>C]

NM_018941.4(CLN8):c.-123-1G>C

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.-123-1G>C
HGVS:
  • NC_000008.11:g.1770931G>C
  • NG_008656.2:g.20154G>C
  • NG_159246.1:g.98G>C
  • NM_018941.4:c.-123-1G>CMANE SELECT
  • LRG_691t1:c.-123-1G>C
  • LRG_691:g.20154G>C
  • NC_000008.10:g.1719097G>C
  • NM_018941.3:c.-123-1G>C
Links:
dbSNP: rs1554448791
NCBI 1000 Genomes Browser:
rs1554448791
Molecular consequence:
  • NM_018941.4:c.-123-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000793817Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 14, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000793817.1

#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: Jun 10, 2023