NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 4, 2024
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:: RCV004584730.1

Allele description [Variation Report for NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)]

NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)

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.2962G>A (p.Val988Ile)

Other names:

p.Val933Ile

HGVS:

NC_000003.12:g.193667259G>A
NG_011605.1:g.79116G>A
NM_001354663.2:c.2428G>A
NM_001354664.2:c.2425G>A
NM_015560.3:c.2797G>A
NM_130831.3:c.2689G>A
NM_130832.3:c.2743G>A
NM_130833.3:c.2800G>A
NM_130834.3:c.2851G>A
NM_130835.3:c.2854G>A
NM_130836.3:c.2908G>A
NM_130837.3:c.2962G>AMANE SELECT
NP_001341592.1:p.Val810Ile
NP_001341593.1:p.Val809Ile
NP_056375.2:p.Val933Ile
NP_056375.2:p.Val933Ile
NP_570844.1:p.Val897Ile
NP_570845.1:p.Val915Ile
NP_570846.1:p.Val934Ile
NP_570847.2:p.Val951Ile
NP_570848.1:p.Val952Ile
NP_570849.2:p.Val970Ile
NP_570850.2:p.Val988Ile
LRG_337t1:c.2797G>A
LRG_337:g.79116G>A
LRG_337p1:p.Val933Ile
NC_000003.11:g.193385048G>A
NM_015560.2:c.2797G>A

Protein change:

V809I

Links:

dbSNP: rs375733283

NCBI 1000 Genomes Browser:

rs375733283

Molecular consequence:

NM_001354663.2:c.2428G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354664.2:c.2425G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015560.3:c.2797G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130831.3:c.2689G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130832.3:c.2743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130833.3:c.2800G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130834.3:c.2851G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130835.3:c.2854G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130836.3:c.2908G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130837.3:c.2962G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Identifiers:: MONDO: MONDO:0007429; MedGen: C3276549; OMIM: 125250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005073782	Laboratory of Prof. Karen Avraham, Tel Aviv University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 4, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005073782

Laboratory of Prof. Karen Avraham, Tel Aviv University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 4, 2024)

germline

research

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
Jewish	germline	yes	1	not provided	not provided	not provided	not provided	research

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 Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV005073782.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Jewish	1	not provided	not provided	research	PubMed (1)

Description

Pathgenic by Deafness Variation Database according to PMID:20417568, 25794858, 28926202

#	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: Nov 30, 2024

ClinVar

Relating variation to medicine