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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 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:
RCV000414771.2

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:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Bilateral cleft lip and palate
Identifiers:
MedGen: C1398522
Name:
Low-set ears
Identifiers:
MedGen: C0239234; Human Phenotype Ontology: HP:0000369
Name:
Premature birth
Identifiers:
MedGen: C0151526; Human Phenotype Ontology: HP:0001622
Name:
Wide intermamillary distance
Identifiers:
MedGen: C1827524; Human Phenotype Ontology: HP:0006610
Name:
Hypoplasia of scrotum
Identifiers:
MedGen: C0431659
Name:
Postaxial hand polydactyly
Synonyms:
Postaxial polydactyly of fingers
Identifiers:
MONDO: MONDO:0017426; MedGen: C0431904; Human Phenotype Ontology: HP:0001162
Name:
Camptodactyly of finger
Identifiers:
MedGen: C0409348; Human Phenotype Ontology: HP:0100490

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493050Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 9, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000493050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024