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NC_012920.1(MT-CYB):m.15579A>G AND Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 17, 2019
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:
RCV000855325.1

Allele description [Variation Report for NC_012920.1(MT-CYB):m.15579A>G]

NC_012920.1(MT-CYB):m.15579A>G

Gene:
MT-CYB:mitochondrially encoded cytochrome b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CYB):m.15579A>G
Other names:
MTCYB, 15579A-G, TYR278CYS; Y278C
HGVS:
  • NC_012920.1:m.15579A>G
  • NC_012920.1:g.15579A>G
Protein change:
TYR278CYS
Links:
OMIM: 516020.0010; dbSNP: rs207460002
NCBI 1000 Genomes Browser:
rs207460002

Condition(s)

Name:
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Synonyms:
Mitochondrial myopathy, infantile, transient; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY; COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010780; MedGen: C3151898; Orphanet: 254864; OMIM: 500009

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000998375Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))		Likely pathogenic
(Oct 17, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.

Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, Vissing J.

Ann Neurol. 2001 Oct;50(4):540-3.

PubMed [citation]
PMID:
11601507

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000998375.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The NC_012920.1:m.15579A>G (YP_003024038.1:p.Tyr278Cys) variant in MTCYB gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM8, PM9, PM10, PP4, PP6

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

Last Updated: Jun 23, 2024