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NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) AND Inborn mitochondrial myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 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:
RCV000993588.2

Allele description [Variation Report for NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)]

NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)

Genes:
LARS2-AS1:LARS2 antisense RNA 1 [Gene - HGNC]
LARS2:leucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
HGVS:
  • NC_000003.12:g.45496303G>A
  • NG_033907.3:g.112740G>A
  • NM_001368263.1:c.1552G>A
  • NM_015340.4:c.1552G>AMANE SELECT
  • NP_001355192.1:p.Asp518Asn
  • NP_056155.1:p.Asp518Asn
  • LRG_1353t1:c.1552G>A
  • LRG_1353:g.112740G>A
  • LRG_1353p1:p.Asp518Asn
  • NC_000003.11:g.45537795G>A
  • NG_033907.1:g.112721G>A
  • NG_033907.2:g.112721G>A
  • NM_015340.3:c.1552G>A
Protein change:
D518N
Links:
dbSNP: rs116826217
NCBI 1000 Genomes Browser:
rs116826217
Molecular consequence:
  • NM_001368263.1:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015340.4:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn mitochondrial myopathy
Synonyms:
Mitochondrial myopathy; Mitochondrial Myopathies
Identifiers:
MONDO: MONDO:0009637; MedGen: C0162670; Human Phenotype Ontology: HP:0003737

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000994660Kids Research, The Children's Hospital at Westmead
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 18, 2019) 		inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kids Research, The Children's Hospital at Westmead, SCV000994660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 20, 2024