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NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) AND Myoclonic epilepsy, progressive, X-linked

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987798.1

Allele description [Variation Report for NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)]

NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)

Gene:
EPM2A:EPM2A glucan phosphatase, laforin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.3
Genomic location:
Preferred name:
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
HGVS:
  • NC_000006.12:g.145635403G>A
  • NG_012832.2:g.105453C>T
  • NM_001018041.2:c.560C>T
  • NM_001360057.2:c.477-7710C>T
  • NM_001360064.2:c.146C>T
  • NM_001360071.2:c.146C>T
  • NM_001368129.2:c.98C>T
  • NM_001368130.1:c.560C>T
  • NM_001368131.1:c.146C>T
  • NM_001368132.1:c.98C>T
  • NM_005670.4:c.560C>TMANE SELECT
  • NP_001018051.1:p.Thr187Ile
  • NP_001346993.1:p.Thr49Ile
  • NP_001347000.1:p.Thr49Ile
  • NP_001355058.1:p.Thr33Ile
  • NP_001355059.1:p.Thr187Ile
  • NP_001355060.1:p.Thr49Ile
  • NP_001355061.1:p.Thr33Ile
  • NP_005661.1:p.Thr187Ile
  • NC_000006.11:g.145956539G>A
  • NG_012832.1:g.105453C>T
Protein change:
T187I
Links:
dbSNP: rs1582935082
NCBI 1000 Genomes Browser:
rs1582935082
Molecular consequence:
  • NM_001360057.2:c.477-7710C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018041.2:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360064.2:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360071.2:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368129.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368130.1:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368131.1:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368132.1:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005670.4:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myoclonic epilepsy, progressive, X-linked
Identifiers:
MedGen: CN263077; OMIM: 310370

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137252Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137252.1

#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: Sep 29, 2024