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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2020
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:
RCV002252181.4

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:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523926Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 18, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523926.1

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

Description

ACMG classification criteria: BS1

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

Last Updated: Nov 3, 2024