NM_130837.3(OPA1):c.2873_2876del AND Mitochondrial disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000508703.9

Allele description [Variation Report for NM_130837.3(OPA1):c.2873_2876del]

NM_130837.3(OPA1):c.2873_2876del

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.2873_2876del

Other names:

p.Val903Glyfs*3

HGVS:

NC_000003.12:g.193667170_193667173del
NG_011605.1:g.79027_79030del
NM_130837.3:c.2873_2876delMANE SELECT
LRG_337t1:c.2708_2711del
LRG_337t2:c.2873_2876del
LRG_337:g.79027_79030del
NC_000003.11:g.193384957_193384960del
NC_000003.11:g.193384959_193384962del
NM_015560.2:c.2708_2711delTTAG
NM_015560.3:c.2708_2711delTTAG
NM_130837.2:c.2873_2876del
NM_130837.2:c.2873_2876delTTAG
NM_130837.3:c.2873-2_2874delMANE SELECT
NP_056375.2:p.Val903GlyfsTer3
p.(Val903Glyfs*3)
p.V903GfsX3

Links:

OMIM: 605290.0003; dbSNP: rs80356530

NCBI 1000 Genomes Browser:

rs80356530

Molecular consequence:

NM_130837.3:c.2873_2876del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Mitochondrial disease
Synonyms:: Mitochondrial diseases; Mitochondrial disorder
Identifiers:: MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000575923	Wellcome Centre for Mitochondrial Research, Newcastle University	no assertion criteria provided	Pathogenic (Apr 7, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575923

Wellcome Centre for Mitochondrial Research, Newcastle University

no assertion criteria provided

Pathogenic
(Apr 7, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Decreased male reproductive success in association with mitochondrial dysfunction.

Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM.

Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.

PubMed [citation]

PMID:: 28812649
PMCID:: PMC5600812

Details of each submission

From Wellcome Centre for Mitochondrial Research, Newcastle University, SCV000575923.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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