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NM_020442.6(VARS2):c.986-14A>G AND Combined oxidative phosphorylation defect type 20

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2017
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:
RCV000625985.2

Allele description [Variation Report for NM_020442.6(VARS2):c.986-14A>G]

NM_020442.6(VARS2):c.986-14A>G

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.986-14A>G
HGVS:
  • NC_000006.12:g.30918813A>G
  • NG_034224.1:g.9606A>G
  • NM_001167733.3:c.566-14A>G
  • NM_001167734.2:c.1076-14A>G
  • NM_020442.6:c.986-14A>GMANE SELECT
  • NC_000006.11:g.30886590A>G
  • NM_001167734.1:c.1076-14A>G
Links:
dbSNP: rs1297230026
NCBI 1000 Genomes Browser:
rs1297230026
Molecular consequence:
  • NM_001167733.3:c.566-14A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167734.2:c.1076-14A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020442.6:c.986-14A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Combined oxidative phosphorylation defect type 20
Synonyms:
Combined oxidative phosphorylation deficiency 20
Identifiers:
MONDO: MONDO:0014397; MedGen: C4014660; Orphanet: 420728; OMIM: 615917

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746590Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 4, 2017)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicmaternalyes1not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing
(GTR000553916.1)
PubMed (1)

Description

This variant was found in trans with another variant (p.A420T) in a 6-year-old male with severe neurodevelopmental impairment, encephalopathy, microcephaly, hypertrophic cardiomyopathy, lactic acidosis, seizure disorder (infantile spasms), abnormal MRI showing brain and brainstem atrophy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided
(GTR000553916.1)
1not providednot providednot provided

Last Updated: Aug 15, 2022