NC_012920.1(MT-TS2):m.8483_13459del AND Kearns-Sayre syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000855712.2

Allele description [Variation Report for NC_012920.1(MT-TS2):m.8483_13459del]

NC_012920.1(MT-TS2):m.8483_13459del

Genes:

MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
MT-ND3:mitochondrially encoded NADH dehydrogenase 3 [Gene - OMIM - HGNC]
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
MT-ND4L:mitochondrially encoded NADH dehydrogenase 4L [Gene - OMIM - HGNC]
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
MT-CO3:mitochondrially encoded cytochrome c oxidase III [Gene - OMIM - HGNC]
MT-TR:mitochondrially encoded tRNA arginine [Gene - OMIM - HGNC]
MT-TG:mitochondrially encoded tRNA glycine [Gene - OMIM - HGNC]
MT-TH:mitochondrially encoded tRNA histidine [Gene - OMIM - HGNC]
MT-TL2:mitochondrially encoded tRNA leucine 2 (CUN) [Gene - OMIM - HGNC]
MT-TS2:mitochondrially encoded tRNA serine 2 (AGU/C) [Gene - OMIM - HGNC]

Variant type:

Deletion

Genomic location:

Preferred name:

NC_012920.1(MT-TS2):m.8483_13459del

HGVS:

NC_012920.1:m.8470_13446del4977
NC_012920.1:m.8483_13459del
NC_012920.1:m.8470_13446del4977
NC_012920.1:m.8483_13459del4977

Condition(s)

Name:: Kearns-Sayre syndrome
Synonyms:: Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; Oculocraniosomatic syndrome; Ophthalmoplegia plus syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010787; MedGen: C0022541; Orphanet: 480; OMIM: 530000

Recent activity

Clear Turn Off Turn On

Blood Cell Count
Blood Cell Count
The number of LEUKOCYTES and ERYTHROCYTES per unit volume in a sample of venous BLOOD. A complete blood count (CBC) also includes measurement of the HEMOGLOBIN; HEMATOCRIT; an...<br/>

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998895	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998895

GeneReviews

no classification provided

not provided

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Single Large-Scale Mitochondrial DNA Deletion Syndromes.

Goldstein A, Falk MJ.

2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301382

Details of each submission

From GeneReviews, SCV000998895.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine