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

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV002513308.1

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)

Name:
Perrault syndrome
Synonyms:
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Identifiers:
MONDO: MONDO:0017312; MedGen: C0685838; Orphanet: 2855; OMIM: PS233400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003525970GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC.

Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.

PubMed [citation]
PMID:
21464306
PMCID:
PMC3081023

Details of each submission

From GeneReviews, SCV003525970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Created an alternate splice site leading to deletion of 12 codons.

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

Last Updated: Jul 15, 2024