NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 1, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000517407.18

Allele description [Variation Report for NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)]

NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)

HGVS:

NC_000003.12:g.193659540G>A
NG_011605.1:g.71397G>A
NM_001354663.2:c.1965G>A
NM_001354664.2:c.1962G>A
NM_015560.3:c.2334G>A
NM_130831.3:c.2226G>A
NM_130832.3:c.2280G>A
NM_130833.3:c.2337G>A
NM_130834.3:c.2388G>A
NM_130835.3:c.2391G>A
NM_130836.3:c.2445G>A
NM_130837.3:c.2499G>AMANE SELECT
NP_001341592.1:p.Trp655Ter
NP_001341593.1:p.Trp654Ter
NP_056375.2:p.Trp778Ter
NP_056375.2:p.Trp778Ter
NP_570844.1:p.Trp742Ter
NP_570845.1:p.Trp760Ter
NP_570846.1:p.Trp779Ter
NP_570847.2:p.Trp796Ter
NP_570848.1:p.Trp797Ter
NP_570849.2:p.Trp815Ter
NP_570850.2:p.Trp833Ter
LRG_337t1:c.2334G>A
LRG_337:g.71397G>A
LRG_337p1:p.Trp778Ter
NC_000003.11:g.193377329G>A
NM_015560.2:c.2334G>A
p.TRP778*

Protein change:

W654*

Links:

dbSNP: rs1553785338

NCBI 1000 Genomes Browser:

rs1553785338

Molecular consequence:

NM_001354663.2:c.1965G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354664.2:c.1962G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_015560.3:c.2334G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130831.3:c.2226G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130832.3:c.2280G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130833.3:c.2337G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130834.3:c.2388G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130835.3:c.2391G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130836.3:c.2445G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_130837.3:c.2499G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614381	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (May 25, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002563808	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Nov 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614381

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(May 25, 2017)

germline

clinical testing

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

SCV002563808

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Nov 1, 2020)

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV000614381.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV002563808.16

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

Last Updated: Oct 20, 2024

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