NC_012920.1(MT-ATP6):m.8719G>A 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:: RCV000854300.1

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8719G>A]

NC_012920.1(MT-ATP6):m.8719G>A

Gene:

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.8719G>A

HGVS:

NC_012920.1:m.8719G>A

Links:

dbSNP: rs28624611

NCBI 1000 Genomes Browser:

rs28624611

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

Recent activity

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PREDICTED: Cucumis sativus uncharacterized LOC101215948 (LOC101215948), transcri...
PREDICTED: Cucumis sativus uncharacterized LOC101215948 (LOC101215948), transcript variant X4, mRNA
gi|1784870465|ref|XM_004149123.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000997333	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Likely pathogenic (Oct 17, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000997333

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

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Likely pathogenic
(Oct 17, 2019)

germline

clinical testing

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

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997333.1

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

Description

The NC_012920.1:m.8719G>A (YP_003024031.1:p.Gly65Ter) variant in MTATP6 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS6, PP6, PP7

#	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 24, 2022

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