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NM_012208.4(HARS2):c.598C>G (p.Leu200Val) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 26, 2018
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:
RCV002468984.1

Allele description [Variation Report for NM_012208.4(HARS2):c.598C>G (p.Leu200Val)]

NM_012208.4(HARS2):c.598C>G (p.Leu200Val)

Gene:
HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
HGVS:
  • NC_000005.10:g.140695810C>G
  • NG_021415.1:g.9378C>G
  • NG_032158.1:g.577G>C
  • NM_001278731.2:c.523C>G
  • NM_001278732.2:c.166C>G
  • NM_001363535.2:c.616C>G
  • NM_001363536.2:c.388C>G
  • NM_012208.4:c.598C>GMANE SELECT
  • NP_001265660.1:p.Leu175Val
  • NP_001265661.1:p.Leu56Val
  • NP_001350464.1:p.Leu206Val
  • NP_001350465.1:p.Leu130Val
  • NP_036340.1:p.Leu200Val
  • LRG_1376t1:c.598C>G
  • LRG_1374:g.577G>C
  • LRG_1376:g.9378C>G
  • LRG_1376p1:p.Leu200Val
  • NC_000005.9:g.140075395C>G
  • NM_012208.2:c.598C>G
  • NM_012208.3:c.598C>G
  • P49590:p.Leu200Val
Protein change:
L130V; LEU200VAL
Links:
UniProtKB: P49590#VAR_069532; OMIM: 600783.0001; dbSNP: rs397515410
NCBI 1000 Genomes Browser:
rs397515410
Molecular consequence:
  • NM_001278731.2:c.523C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278732.2:c.166C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363535.2:c.616C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363536.2:c.388C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012208.4:c.598C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002765531GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jan 26, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002765531.1

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

Description

Published functional studies demonstrate aberrant splicing and reduced enzymatic activity (Pierce et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 517579, 27650058, 31589614, 34406847, 31827252, 31449985, 21464306)

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

Last Updated: Jul 15, 2024