NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Likely pathogenic (Last evaluated: Feb 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672641.1

Allele description [Variation Report for NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)]

NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)
HGVS:
  • NC_000015.10:g.68208289AG[3]
  • NG_008764.2:g.53920CT[3]
  • NM_017882.3:c.786_787dupMANE SELECT
  • NP_060352.1:p.Phe263fs
  • LRG_832t1:c.786_787dup
  • LRG_832:g.53920CT[3]
  • LRG_832p1:p.Phe263fs
  • NC_000015.9:g.68500627AG[3]
Protein change:
F263fs
Links:
dbSNP: rs1555438229
NCBI 1000 Genomes Browser:
rs1555438229
Molecular consequence:
  • NM_017882.3:c.786_787dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 6 (CLN6)
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CLN6-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0011144; MedGen: C1866282; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000797766Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 16, 2018)
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, SCV000797766.1

#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: Jul 29, 2021

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