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NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2021
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:
RCV002529769.4

Allele description [Variation Report for NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)]

NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)

Gene:
VARS2:valyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
HGVS:
  • NC_000006.12:g.30920091G>A
  • NG_034224.1:g.10884G>A
  • NM_001167733.3:c.748G>A
  • NM_001167734.2:c.1258G>A
  • NM_020442.6:c.1168G>AMANE SELECT
  • NP_001161205.1:p.Ala250Thr
  • NP_001161206.1:p.Ala420Thr
  • NP_001161206.1:p.Ala420Thr
  • NP_065175.4:p.Ala390Thr
  • NC_000006.11:g.30887868G>A
  • NM_001167734.1:c.1258G>A
  • p.A420T
Protein change:
A250T; ALA420THR
Links:
OMIM: 612802.0005; dbSNP: rs202201763
NCBI 1000 Genomes Browser:
rs202201763
Molecular consequence:
  • NM_001167733.3:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167734.2:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020442.6:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003681574Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 11, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

PubMed [citation]
PMID:
29314548
PMCID:
PMC5873438

Details of each submission

From Ambry Genetics, SCV003681574.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Bruni, 2018 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024