NM_017882.3(CLN6):c.890del (p.Pro297fs) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Likely pathogenic (Last evaluated: Sep 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669748.1

Allele description [Variation Report for NM_017882.3(CLN6):c.890del (p.Pro297fs)]

NM_017882.3(CLN6):c.890del (p.Pro297fs)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.890del (p.Pro297fs)
Other names:
Pro297LeufsX53
HGVS:
  • NC_000015.10:g.68208188del
  • NG_008764.2:g.54026del
  • NM_017882.3:c.890delMANE SELECT
  • NP_060352.1:p.Pro297fs
  • LRG_832t1:c.890del
  • LRG_832:g.54026del
  • LRG_832p1:p.Pro297fs
  • NC_000015.9:g.68500526del
  • NG_008764.1:g.26557delC
  • NM_017882.2:c.890del
  • NM_017882.2:c.890delC
Protein change:
P297fs
Links:
dbSNP: rs154774639
NCBI 1000 Genomes Browser:
rs154774639
Molecular consequence:
  • NM_017882.3:c.890del - 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
SCV000794529Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 28, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

PubMed [citation]
PMID:
21549341
PMCID:
PMC3146726

Details of each submission

From Counsyl, SCV000794529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2021

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