NC_012920.1(MT-ND4):m.11777C>A AND Leber optic atrophy

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:: RCV000854746.1

Allele description [Variation Report for NC_012920.1(MT-ND4):m.11777C>A]

NC_012920.1(MT-ND4):m.11777C>A

Gene:

MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ND4):m.11777C>A

HGVS:

NC_012920.1:m.11777C>A
p.Arg340Ser

Nucleotide change:

11777C-A

Links:

OMIM: 516003.0004; dbSNP: rs28384199

NCBI 1000 Genomes Browser:

rs28384199

Condition(s)

Name:: Leber optic atrophy (LHON)
Synonyms:: Optic Atrophy, Hereditary, Leber; Leber hereditary optic neuropathy; Leber's disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000997788	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Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Pathogenic (Oct 17, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16120329, 12707444 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000997788

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(Modified ACMG Guidelines (Unpublished))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 (2)
[See all records that cite these PMIDs]

Citation Link

Help

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

A novel mtDNA C11777A mutation in Leigh syndrome.

Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, Nonaka I, Goto Y.

Mitochondrion. 2003 Mar;2(4):293-304.

PubMed [citation]

PMID:: 16120329

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW.

Neurology. 2003 Apr 22;60(8):1357-9.

PubMed [citation]

PMID:: 12707444

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997788.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The NC_012920.1:m.11777C>A (YP_003024035.1:p.Arg340Ser) variant in MTND4 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS3, PM8, PM9, PP3, PP4, PP6

#	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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