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NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Autosomal dominant optic atrophy classic form

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 14, 2024
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:
RCV003137493.11

Allele description [Variation Report for NM_130837.3(OPA1):c.1499G>A (p.Arg500His)]

NM_130837.3(OPA1):c.1499G>A (p.Arg500His)

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.1499G>A (p.Arg500His)
Other names:
R445H
HGVS:
  • NC_000003.12:g.193643996G>A
  • NG_011605.1:g.55853G>A
  • NM_001354663.2:c.965G>A
  • NM_001354664.2:c.962G>A
  • NM_015560.3:c.1334G>A
  • NM_130831.3:c.1226G>A
  • NM_130832.3:c.1280G>A
  • NM_130833.3:c.1337G>A
  • NM_130834.3:c.1388G>A
  • NM_130835.3:c.1391G>A
  • NM_130836.3:c.1445G>A
  • NM_130837.3:c.1499G>AMANE SELECT
  • NP_001341592.1:p.Arg322His
  • NP_001341593.1:p.Arg321His
  • NP_056375.2:p.Arg445His
  • NP_056375.2:p.Arg445His
  • NP_570844.1:p.Arg409His
  • NP_570845.1:p.Arg427His
  • NP_570846.1:p.Arg446His
  • NP_570847.2:p.Arg463His
  • NP_570848.1:p.Arg464His
  • NP_570849.2:p.Arg482His
  • NP_570850.2:p.Arg500His
  • LRG_337t1:c.1334G>A
  • LRG_337:g.55853G>A
  • LRG_337p1:p.Arg445His
  • NC_000003.11:g.193361785G>A
  • NM_015560.2:c.1334G>A
  • NM_130831.1:c.1226G>A
  • NM_130837.3:c.1499G>A
  • O60313:p.Arg445His
  • p.R445H
Protein change:
R321H; ARG445HIS
Links:
UniProtKB: O60313#VAR_015741; OMIM: 605290.0011; dbSNP: rs80356529
NCBI 1000 Genomes Browser:
rs80356529
Molecular consequence:
  • NM_001354663.2:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1334G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal dominant optic atrophy classic form (OPA1)
Synonyms:
Optic atrophy, juvenile; Kjer-type optic atrophy; Optic Atrophy Type 1
Identifiers:
MONDO: MONDO:0008134; MedGen: C0338508; Orphanet: 98673; OMIM: 165500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807194Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 27, 2023) 		germlineclinical testing

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

SCV004801269Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 14, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807194.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PS3 supporting, PS4 strong, PM2 moderated, PM6 moderated, PP1 supporting, PP3 supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004801269.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2024