m.5888delT AND Kearns-Sayre syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 26, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000010160.4

Allele description [Variation Report for m.5888delT]

m.5888delT

Gene:

MT-TY:mitochondrially encoded tRNA tyrosine [Gene - OMIM - HGNC]

Variant type:

Deletion

Genomic location:

Preferred name:

m.5888delT

HGVS:

NC_012920.1:m.5888del

Links:

OMIM: 590100.0002; dbSNP: rs118203892

NCBI 1000 Genomes Browser:

rs118203892

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030381	OMIM	no assertion criteria provided	Pathogenic (Dec 26, 2001)	somatic	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

SCV000030381

OMIM

no assertion criteria provided

Pathogenic
(Dec 26, 2001)

somatic

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	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.

Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE.

Neurology. 2001 Dec 26;57(12):2298-301.

PubMed [citation]

PMID:: 11756614

Details of each submission

From OMIM, SCV000030381.1

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

Description

In a female patient with chronic progressive external ophthalmoplegia, mild myopathy, and exercise intolerance, Raffelsberger et al. (2001) identified a single basepair deletion at position 5885 (5885delT) in the mitochondrial tRNA tyrosine gene. The deletion was found only in the patient's skeletal muscle tissue and not in her blood, in the blood of her relatives, or in more than 300 controls, suggesting somatic mutation. The deletion occurs in the aminoacyl-acceptor stem of the tRNA, a position that may produce a nonfunctional tRNA by affecting formation of secondary and tertiary protein structure.

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

Last Updated: Oct 28, 2023

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