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NM_130837.3(OPA1):c.2873_2876del AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV002490322.8

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]

Condition(s)

Name:
Abortive cerebellar ataxia (BEHRS)
Synonyms:
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES; Behr syndrome; Optic atrophy, infantile hereditary, Behr complicated form of; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008858; MedGen: C0221061; Orphanet: 1239; OMIM: 210000
Name:
Glaucoma, normal tension, susceptibility to (NTG)
Synonyms:
GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0011693; MedGen: C1847730; OMIM: 606657
Name:
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Identifiers:
MONDO: MONDO:0007429; MedGen: C3276549; OMIM: 125250
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
Name:
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (MTDPS14)
Synonyms:
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
Identifiers:
MONDO: MONDO:0014820; MedGen: C4225163; OMIM: 616896

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002777553Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 22, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002777553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024