U.S. flag

An official website of the United States government

NC_012920.1(MT-CO1):m.5913G>A AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 27, 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:
RCV001288242.2

Allele description [Variation Report for NC_012920.1(MT-CO1):m.5913G>A]

NC_012920.1(MT-CO1):m.5913G>A

Gene:
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CO1):m.5913G>A
HGVS:
NC_012920.1:m.5913G>A
Links:
dbSNP: rs201617272
NCBI 1000 Genomes Browser:
rs201617272

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001475216Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jul 27, 2020) 		unknownclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits.

Liu C, Yang Q, Hwang SJ, Sun F, Johnson AD, Shirihai OS, Vasan RS, Levy D, Schwartz F.

Hypertension. 2012 Oct;60(4):949-56. doi: 10.1161/HYPERTENSIONAHA.112.196519. Epub 2012 Sep 4.

PubMed [citation]
PMID:
22949535
PMCID:
PMC3753106

Phylogenetic network for European mtDNA.

Finnilä S, Lehtonen MS, Majamaa K.

Am J Hum Genet. 2001 Jun;68(6):1475-84. Epub 2001 May 10.

PubMed [citation]
PMID:
11349229
PMCID:
PMC1226134
See all PubMed Citations (10)

Details of each submission

From Athena Diagnostics, SCV001475216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024