NM_018122.5(DARS2):c.*642C>A AND Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000371574.1

Allele description [Variation Report for NM_018122.5(DARS2):c.*642C>A]

NM_018122.5(DARS2):c.*642C>A

Gene:
DARS2:aspartyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.1
Genomic location:
Preferred name:
NM_018122.5(DARS2):c.*642C>A
HGVS:
  • NC_000001.11:g.173858347C>A
  • NG_016138.1:g.38689C>A
  • NM_018122.5:c.*642C>A
  • NC_000001.10:g.173827485C>A
  • NM_018122.4:c.*642C>A
Links:
dbSNP: rs140743566
NCBI 1000 Genomes Browser:
rs140743566
Molecular consequence:
  • NM_018122.4:c.*642C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Synonyms:
MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MILD; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Identifiers:
MedGen: C1970180; Orphanet: 137898; OMIM: 611105

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000351477Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000351477.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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