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m.12770A>G AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 1, 2003
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:
RCV000010339.3

Allele description [Variation Report for m.12770A>G]

m.12770A>G

Gene:
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.12770A>G
Other names:
MTND5, 12770A-G, GLU145GLY; E145G
HGVS:
NC_012920.1:m.12770A>G
Protein change:
GLU145GLY
Links:
OMIM: 516005.0004; dbSNP: rs267606894
NCBI 1000 Genomes Browser:
rs267606894

Condition(s)

Name:
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (MELAS)
Synonyms:
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; MELAS syndrome
Identifiers:
MONDO: MONDO:0010789; MedGen: C0162671; Orphanet: 550; OMIM: 540000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030565OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2003) 		germlineliterature only

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

SCV004042636GeneReviews
no classification provided
not providedmaternalliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedmaternalunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG.

Ann Neurol. 2003 Jan;53(1):128-32.

PubMed [citation]
PMID:
12509858

Details of each submission

From OMIM, SCV000030565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with MELAS syndrome (540000) characterized by focal neurologic dysfunction, increased CSF lactate, and abnormalities on MRI, Liolitsa et al. (2003) identified a heteroplasmic 12770A-G transition in the MTND5 gene, resulting in a glu145-to-gly (E145G) mutation. Skeletal muscle biopsy was normal, with no ragged-red fibers or COX-negative fibers. There was a 48% mutant load in muscle.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV004042636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023