NC_012920.1(MT-CYB):m.4384T>C AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 12, 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:: RCV000850750.1

Allele description [Variation Report for NC_012920.1(MT-CYB):m.4384T>C]

NC_012920.1(MT-CYB):m.4384T>C

Gene:

MT-TQ:mitochondrially encoded tRNA glutamine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CYB):m.4384T>C

HGVS:

NC_012920.1:m.4384T>C

Links:

dbSNP: rs1603219436

NCBI 1000 Genomes Browser:

rs1603219436

Condition(s)

Name:: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (MELAS)
Synonyms:: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; MELAS syndrome
Identifiers:: MONDO: MONDO:0010789; MedGen: C0162671; Orphanet: 550; OMIM: 540000

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NT5E [Bos taurus]
NT5E [Bos taurus]
Gene ID:281363

Gene
281363[uid] AND (alive[prop]) (1)
Gene
RecName: Full=Sorting nexin-18; AltName: Full=SH3 and PX domain-containing prote...
RecName: Full=Sorting nexin-18; AltName: Full=SH3 and PX domain-containing protein 3B
gi|215273942|sp|Q96RF0.2|SNX18_HUMA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992983	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Benign (Jul 12, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link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

SCV000992983

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

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Benign
(Jul 12, 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

Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ.

Genet Med. 2020 May;22(5):917-926. doi: 10.1038/s41436-019-0746-0. Epub 2020 Jan 22. Erratum in: Genet Med. 2020 May;22(5):979. doi: 10.1038/s41436-020-0770-0. Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9.

PubMed [citation]

PMID:: 31965079

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000992983.1

#	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.4384T>C variant in MT-TQ gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4

#	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: Dec 11, 2022

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