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NM_198076.6(COX20):c.41A>G (p.Lys14Arg) AND Mitochondrial disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 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:
RCV005355750.1

Allele description [Variation Report for NM_198076.6(COX20):c.41A>G (p.Lys14Arg)]

NM_198076.6(COX20):c.41A>G (p.Lys14Arg)

Genes:
LOC129932912:ATAC-STARR-seq lymphoblastoid silent region 2019 [Gene]
COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_198076.6(COX20):c.41A>G (p.Lys14Arg)
HGVS:
  • NC_000001.11:g.244835755A>G
  • NG_042825.1:g.5450A>G
  • NM_001312871.1:c.41A>G
  • NM_001312872.1:c.41A>G
  • NM_001312873.1:c.22+19A>G
  • NM_001312874.1:c.41A>G
  • NM_198076.6:c.41A>GMANE SELECT
  • NP_001299800.1:p.Lys14Arg
  • NP_001299801.1:p.Lys14Arg
  • NP_001299803.1:p.Lys14Arg
  • NP_932342.1:p.Lys14Arg
  • NC_000001.10:g.244999057A>G
  • NM_198076.4:c.41A>G
  • NM_198076.5:c.41A>G
  • NR_132419.1:n.280A>G
  • p.K14R
Protein change:
K14R; LYS14ARG
Links:
OMIM: 614698.0002; dbSNP: rs1057521790
NCBI 1000 Genomes Browser:
rs1057521790
Molecular consequence:
  • NM_001312873.1:c.22+19A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001312871.1:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001312872.1:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001312874.1:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198076.6:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_132419.1:n.280A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mitochondrial disease
Synonyms:
Mitochondrial disorder
Identifiers:
MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005916786Department of Pathology and Laboratory Medicine, Sinai Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 22, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

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 Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005916786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025