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NM_017882.3(CLN6):c.297+4C>T AND Seizure

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 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:
RCV000718650.1

Allele description

NM_017882.3(CLN6):c.297+4C>T

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.297+4C>T
HGVS:
  • NC_000015.10:g.68214286G>A
  • NG_008764.2:g.47926C>T
  • NM_017882.3:c.297+4C>TMANE SELECT
  • LRG_832t1:c.297+4C>T
  • LRG_832:g.47926C>T
  • NC_000015.9:g.68506624G>A
  • NM_017882.2:c.297+4C>T
Links:
dbSNP: rs1030759897
NCBI 1000 Genomes Browser:
rs1030759897
Molecular consequence:
  • NM_017882.3:c.297+4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849514Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Uncertain significance
(May 9, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849514.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.297+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 3 in the CLN6 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022