NC_012920.1(MT-ATP6):m.8993T>G AND Cerebellar ataxia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 2014
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:: RCV000191106.2

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8993T>G]

NC_012920.1(MT-ATP6):m.8993T>G

Genes:

MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
MT-ND2:mitochondrially encoded NADH dehydrogenase 2 [Gene - OMIM - HGNC]
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
MT-CO2:mitochondrially encoded cytochrome c oxidase II [Gene - OMIM - HGNC]
MT-TD:mitochondrially encoded tRNA aspartic acid [Gene - OMIM - HGNC]
MT-TI:mitochondrially encoded tRNA isoleucine [Gene - OMIM - HGNC]
MT-TK:mitochondrially encoded tRNA lysine [Gene - OMIM - HGNC]
MT-TM:mitochondrially encoded tRNA methionine [Gene - OMIM - HGNC]
MT-TW:mitochondrially encoded tRNA tryptophan [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-TA:mitochondrially encoded tRNA alanine [Gene - OMIM - HGNC]
MT-TR:mitochondrially encoded tRNA arginine [Gene - OMIM - HGNC]
MT-TN:mitochondrially encoded tRNA asparagine [Gene - OMIM - HGNC]
MT-TC:mitochondrially encoded tRNA cysteine [Gene - OMIM - HGNC]
MT-TQ:mitochondrially encoded tRNA glutamine [Gene - OMIM - HGNC]
MT-TG:mitochondrially encoded tRNA glycine [Gene - OMIM - HGNC]
MT-TH:mitochondrially encoded tRNA histidine [Gene - OMIM - HGNC]
MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
MT-TS2:mitochondrially encoded tRNA serine 2 (AGU/C) [Gene - OMIM - HGNC]
MT-TY:mitochondrially encoded tRNA tyrosine [Gene - OMIM - HGNC]
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP6):m.8993T>G

Other names:

MTATP6, 8993T-G, LEU156ARG; L156R

HGVS:

NC_012920.1:m.8993T>G
NC_012920.1:g.8993T>G
m.8993T>G
p.Leu156Arg

Protein change:

LEU156ARG

Links:

Genetic Testing Registry (GTR): GTR000556568; Genetic Testing Registry (GTR): GTR000556575; OMIM: 516060.0001; dbSNP: rs199476133

NCBI 1000 Genomes Browser:

rs199476133

Condition(s)

Name:: Cerebellar ataxia
Identifiers:: MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245508	Baylor Genetics - Adult_WES	criteria provided, single submitter (Yang et al. 2013)	Pathogenic (Nov 6, 2014)	maternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24088041, 26633545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245508

Baylor Genetics - Adult_WES

criteria provided, single submitter

(Yang et al. 2013)

Pathogenic
(Nov 6, 2014)

maternal

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic Americans	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, et al.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

PubMed [citation]

PMID:: 26633545
PMCID:: PMC4892996

Details of each submission

From Baylor Genetics - Adult_WES, SCV000245508.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic Americans	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

Description

This variant has been previously reported as disease-causing and was found once in our laboratory homoplasmic in a 22-year-old female with ataxia, abnormal movements - inherited from a heteroplasmic mother

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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