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NC_012920.1:m.12889G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2017
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:
RCV000508489.8

Allele description [Variation Report for NC_012920.1:m.12889G>A]

NC_012920.1:m.12889G>A

Gene:
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.12889G>A
HGVS:
NC_012920.1:m.12889G>A
Links:
dbSNP: rs1556424185
NCBI 1000 Genomes Browser:
rs1556424185

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000604442ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604442.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The m.12889G>A variant, to our knowledge, is not reported in the medical literature or gene-specific variant databases. This variant is also not listed in MITOMAP. MT-ND5 is one of seven mitochondrially encoded protein subunits of Complex I, and pathogenic variants in MT-ND5 are associated with LHON and MELAS. However, due to the lack of available information, the clinical significance of the m.12889G>A variant cannot be determined with certainty.

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

Last Updated: Mar 4, 2023