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NC_012920.1(MT-ND4):m.12013A>G AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2016
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:
RCV000408948.1

Allele description [Variation Report for NC_012920.1(MT-ND4):m.12013A>G]

NC_012920.1(MT-ND4):m.12013A>G

Gene:
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ND4):m.12013A>G
HGVS:
NC_012920.1:m.12013A>G
Links:
dbSNP: rs1057516067
NCBI 1000 Genomes Browser:
rs1057516067
Observations:
4

Condition(s)

Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Developmental delay
Identifiers:
MedGen: C0424605
Name:
Congenital cardiomyopathy
Identifiers:
MedGen: C1391997

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484527Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
no assertion criteria provided
Uncertain significance
(Nov 21, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes4not providednot providednot providednot providedclinical testing

Citations

PubMed

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

Bacalhau M, Pratas J, Simões M, Mendes C, Ribeiro C, Santos MJ, Diogo L, Macário MC, Grazina M.

Eur J Med Genet. 2017 Mar;60(3):172-177. doi: 10.1016/j.ejmg.2016.12.009. Epub 2016 Dec 24.

PubMed [citation]
PMID:
28027978

Details of each submission

From Center for Neuroscience and Cell Biology, University of Coimbra, Portugal, SCV000484527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided4not providednot providednot provided

Last Updated: May 19, 2024