U.S. flag

An official website of the United States government

NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Germline classification:
Likely 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:
RCV004584733.1

Allele description [Variation Report for NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)]

NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)

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.2617C>T (p.Arg873Trp)
HGVS:
  • NC_000003.12:g.193662918C>T
  • NG_011605.1:g.74775C>T
  • NM_001354663.2:c.2083C>T
  • NM_001354664.2:c.2080C>T
  • NM_015560.3:c.2452C>T
  • NM_130831.3:c.2344C>T
  • NM_130832.3:c.2398C>T
  • NM_130833.3:c.2455C>T
  • NM_130834.3:c.2506C>T
  • NM_130835.3:c.2509C>T
  • NM_130836.3:c.2563C>T
  • NM_130837.3:c.2617C>TMANE SELECT
  • NP_001341592.1:p.Arg695Trp
  • NP_001341593.1:p.Arg694Trp
  • NP_056375.2:p.Arg818Trp
  • NP_056375.2:p.Arg818Trp
  • NP_570844.1:p.Arg782Trp
  • NP_570845.1:p.Arg800Trp
  • NP_570846.1:p.Arg819Trp
  • NP_570847.2:p.Arg836Trp
  • NP_570848.1:p.Arg837Trp
  • NP_570849.2:p.Arg855Trp
  • NP_570850.2:p.Arg873Trp
  • LRG_337t1:c.2452C>T
  • LRG_337:g.74775C>T
  • LRG_337p1:p.Arg818Trp
  • NC_000003.11:g.193380707C>T
  • NM_015560.2:c.2452C>T
Protein change:
R694W
Links:
dbSNP: rs143252541
NCBI 1000 Genomes Browser:
rs143252541
Molecular consequence:
  • NM_001354663.2:c.2083C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.2080C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.2452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.2344C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.2398C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.2455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.2506C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.2509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.2563C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.2617C>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005073781Laboratory of Prof. Karen Avraham, Tel Aviv University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 4, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewishgermlineyes1not providednot providednot providednot providedresearch

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, SCV005073781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish1not providednot providedresearch PubMed (1)

Description

The variant is very rare and predicted to be deleterious by most prediction programs.There are other missense mutations in the same exon.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 18, 2024