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NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) AND Combined oxidative phosphorylation defect type 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 5, 2018
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:
RCV001334094.8

Allele description [Variation Report for NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)]

NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)

Gene:
AARS2:alanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
HGVS:
  • NC_000006.12:g.44313288_44313296del
  • NG_031952.1:g.5034_5042del
  • NM_020745.4:c.31_39delMANE SELECT
  • NP_065796.2:p.Leu12_Arg14del
  • NC_000006.11:g.44281022_44281030del
  • NC_000006.11:g.44281025_44281033del
  • NM_020745.2:c.31_39del
  • NM_020745.2:c.31_39delAGGCTGCGG
  • NM_020745.3:c.31_39delAGGCTGCGG
  • p.L12_R14del
Links:
dbSNP: rs562829310
NCBI 1000 Genomes Browser:
rs562829310
Molecular consequence:
  • NM_020745.4:c.31_39del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Combined oxidative phosphorylation defect type 8
Synonyms:
CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE; Combined oxidative phosphorylation deficiency 8
Identifiers:
MONDO: MONDO:0013570; MedGen: C4518839; Orphanet: 319504; OMIM: 614096

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001526838Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 5, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Baylor Genetics, SCV001526838.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 3, 2024