NC_012920.1(MT-CO3):m.9205_9206del AND Leber optic atrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002247301.9

Allele description [Variation Report for NC_012920.1(MT-CO3):m.9205_9206del]

NC_012920.1(MT-CO3):m.9205_9206del

Genes:

MT-CO3:mitochondrially encoded cytochrome c oxidase III [Gene - OMIM - HGNC]
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Genomic location:

Preferred name:

NC_012920.1(MT-CO3):m.9205_9206del

HGVS:

NC_012920.1:m.9205_9206del
NC_012920.1:g.9204_9205delAT
m.9205_9206del

Links:

OMIM: 516050.0007; OMIM: 516060.0007; dbSNP: rs199476137

NCBI 1000 Genomes Browser:

rs199476137

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

Recent activity

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30S ribosomal protein S3 [Exiguobacterium sp. SH0S1]
30S ribosomal protein S3 [Exiguobacterium sp. SH0S1]
gi|1587952789|gb|TCI75540.1||gnl|WG C|EVJ20_14240

Protein
50S ribosomal protein L18 [Exiguobacterium sp. SH0S1]
50S ribosomal protein L18 [Exiguobacterium sp. SH0S1]
gi|1587952779|gb|TCI75530.1||gnl|WG C|EVJ20_14190

Protein
50S ribosomal protein L6 [Exiguobacterium sp. SH0S1]
50S ribosomal protein L6 [Exiguobacterium sp. SH0S1]
gi|1587952780|gb|TCI75531.1||gnl|WG C|EVJ20_14195

Protein
PREDICTED: Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), trans...
PREDICTED: Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant X5, mRNA
gi|2462498619|ref|XM_054333156.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002517654	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002517654

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

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

Details of each submission

From Mendelics, SCV002517654.1

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

#	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: Nov 10, 2024

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