NM_017882.3(CLN6):c.486+2T>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187099.1

Allele description [Variation Report for NM_017882.3(CLN6):c.486+2T>C]

NM_017882.3(CLN6):c.486+2T>C

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.486+2T>C
HGVS:
  • NC_000015.10:g.68211673A>G
  • NG_008764.2:g.50539T>C
  • NM_017882.3:c.486+2T>CMANE SELECT
  • LRG_832t1:c.486+2T>C
  • LRG_832:g.50539T>C
  • NC_000015.9:g.68504011A>G
  • NM_017882.2:c.486+2T>C
Links:
dbSNP: rs796052355
NCBI 1000 Genomes Browser:
rs796052355
Molecular consequence:
  • NM_017882.3:c.486+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240674GeneDxcriteria provided, single submitter
Pathogenic
(Oct 18, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240674.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

c.486+2 T>C: IVS4+2 T>C in intron 4 of the CLN6 gene (NM_017882.2). The c.486+2 T>C splice site mutation in CLN6 destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this mutation has not been reported previously to our knowledge, it is expected to be a pathogenic mutation. The variant is found in CHILD-EPI panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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