NC_012920.1(MT-ATP6):m.8993T>G AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 22, 2022
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:: RCV002285006.1

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

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV002574882	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin See additional submitters CUBI - Core Unit Bioinformatics, Berlin Institute of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002574882

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 22, 2022)

germline

clinical testing

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	yes	2	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV002574882.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	Blood	not provided		2	not provided	not provided	not provided

Last Updated: May 19, 2024

ClinVar

Relating variation to medicine