NC_012920.1(MT-ATP8):m.8504T>C AND Leigh syndrome

Germline classification:: Benign (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:: RCV000854210.1

Allele description [Variation Report for NC_012920.1(MT-ATP8):m.8504T>C]

NC_012920.1(MT-ATP8):m.8504T>C

Gene:

MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP8):m.8504T>C

HGVS:

NC_012920.1:m.8504T>C

Links:

dbSNP: rs1603221542

NCBI 1000 Genomes Browser:

rs1603221542

Condition(s)

Name:: Leigh syndrome (NULS)
Synonyms:: Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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AL872676 XGC-egg Xenopus tropicalis cDNA clone TEgg135d07 5', mRNA sequence
AL872676 XGC-egg Xenopus tropicalis cDNA clone TEgg135d07 5', mRNA sequence
gi|38666099|gnl|dbEST|20692951|emb| 676.2|

Nucleotide
Mikania andrei (0)
Nucleotide
oxidoreductase, short chain dehydrogenase/reductase family [gamma proteobacteriu...
oxidoreductase, short chain dehydrogenase/reductase family [gamma proteobacterium NOR51-B]
gi|254282228|ref|ZP_04957196.1||gnl NZ_ACCY01|cds.NOR51B_719

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000997243	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Benign (Oct 17, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000997243

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

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Benign
(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, SCV000997243.1

#	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.8504T>C (YP_003024030.1:p.Tyr47His) variant in MTATP8 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS4

#	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 19, 2024

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