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NM_152268.4(PARS2):c.283G>A (p.Val95Ile) AND PARS2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000723278.1

Allele description [Variation Report for NM_152268.4(PARS2):c.283G>A (p.Val95Ile)]

NM_152268.4(PARS2):c.283G>A (p.Val95Ile)

Gene:
PARS2:prolyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
Other names:
PARS2, VAL95ILE (rs147227819)
HGVS:
  • NC_000001.11:g.54758879C>T
  • NG_042048.1:g.10675G>A
  • NM_152268.4:c.283G>AMANE SELECT
  • NP_689481.2:p.Val95Ile
  • NC_000001.10:g.55224552C>T
  • NM_152268.3:c.283G>A
  • NM_155268.3:c.283G>A
Protein change:
V95I; VAL95ILE
Links:
OMIM: 612036.0005; dbSNP: rs147227819
NCBI 1000 Genomes Browser:
rs147227819
Molecular consequence:
  • NM_152268.4:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PARS2-related disorder
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000854666Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Pathogenic
(Apr 26, 2018)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV000854666.1

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

Last Updated: Sep 29, 2024