m.15150G>A AND Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Germline classification:: 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:: RCV000855232.1

Allele description [Variation Report for m.15150G>A]

m.15150G>A

Gene:

MT-CYB:mitochondrially encoded cytochrome b [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.15150G>A

Other names:

MTCYB, 15150G-A, TRP135TER; W135*

HGVS:

NC_012920.1:m.15150G>A
NC_012920.1:g.15150G>A

Protein change:

TRP135TER

Links:

OMIM: 516020.0008; dbSNP: rs207460000

NCBI 1000 Genomes Browser:

rs207460000

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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PREDICTED: Homo sapiens heterogeneous nuclear ribonucleoprotein U like 1 (HNRNPU...
PREDICTED: Homo sapiens heterogeneous nuclear ribonucleoprotein U like 1 (HNRNPUL1), transcript variant X2, mRNA
gi|2462562616|ref|XM_054319660.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998282	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Pathogenic (Oct 17, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998282

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Pathogenic
(Oct 17, 2019)

germline

clinical testing

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

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional characterization of novel mutations in the human cytochrome b gene.

Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforêt P, Jardel C, Godinot C, Lombès A.

Eur J Hum Genet. 2001 Jul;9(7):510-8.

PubMed [citation]

PMID:: 11464242

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000998282.1

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

Description

The NC_012920.1:m.15150G>A (YP_003024038.1:p.Trp135Ter) variant in MTCYB gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS6, PM8, PM9, PM10

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

Last Updated: May 28, 2022

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