NM_130837.3(OPA1):c.2873_2876del AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2023
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:: RCV004584316.1

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:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002577870	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2023)	unknown	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

SCV002577870

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 6, 2023)

unknown

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	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002577870.2

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

Description

ACMG categories: PVS1,PP1,PP4,PP5

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine