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NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) AND Ceroid lipofuscinosis, neuronal, 6A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 16, 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:
RCV000665609.1

Allele description [Variation Report for NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)]

NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
HGVS:
  • NC_000015.10:g.68209637C>T
  • NG_008764.2:g.52575G>A
  • NM_017882.3:c.665G>AMANE SELECT
  • NP_060352.1:p.Trp222Ter
  • LRG_832t1:c.665G>A
  • LRG_832:g.52575G>A
  • LRG_832p1:p.Trp222Ter
  • NC_000015.9:g.68501975C>T
  • NM_017882.2:c.665G>A
Protein change:
W222*
Links:
dbSNP: rs1555438411
NCBI 1000 Genomes Browser:
rs1555438411
Molecular consequence:
  • NM_017882.3:c.665G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ceroid lipofuscinosis, neuronal, 6A
Synonyms:
Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis, late infantile, variant; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011144; MedGen: C5551375; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000789759Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Feb 16, 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, SCV000789759.1

#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: Nov 10, 2024