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NC_012920.1(MT-CO2):m.7624T>A AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 16, 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:
RCV000992349.2

Allele description [Variation Report for NC_012920.1(MT-CO2):m.7624T>A]

NC_012920.1(MT-CO2):m.7624T>A

Gene:
MT-CO2:mitochondrially encoded cytochrome c oxidase II [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CO2):m.7624T>A
HGVS:
NC_012920.1:m.7624T>A
Links:
dbSNP: rs28358879
NCBI 1000 Genomes Browser:
rs28358879

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001144571Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Nov 16, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N.

Am J Hum Genet. 2002 May;70(5):1152-71. Epub 2002 Apr 5. Erratum in: Am J Hum Genet 2002 Aug;71(2):448-9.

PubMed [citation]
PMID:
11938495
PMCID:
PMC447592

Mitochondrial sequence variation in African-American primary open-angle glaucoma patients.

Collins DW, Gudiseva HV, Trachtman BT, Jerrehian M, Gorry T, Merritt WT 3rd, Rhodes AL, Sankar PS, Regina M, Miller-Ellis E, O'Brien JM.

PLoS One. 2013;8(10):e76627. doi: 10.1371/journal.pone.0076627.

PubMed [citation]
PMID:
24146900
PMCID:
PMC3798711
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001144571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024