NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) AND Autosomal dominant optic atrophy classic form

Clinical significance:Uncertain significance (Last evaluated: Sep 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001146349.1

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)
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_015560.2:c.2797G>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
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_015560.2:c.2797G>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:
Autosomal dominant optic atrophy classic form (OPA1)
Synonyms:
Optic atrophy, juvenile; Kjer-type optic atrophy; Optic Atrophy, Autosomal Dominant; See all synonyms [MedGen]
Identifiers:
MedGen: C0338508; Orphanet: 98673; OMIM: 165500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001307090Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Sep 28, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Cascavilla ML, Parisi V, Triolo G, Ziccardi L, Borrelli E, Di Renzo A, Balducci N, Lamperti C, Bianchi Marzoli S, Darvizeh F, Sadun AA, Carelli V, Bandello F, Barboni P.

Acta Ophthalmol. 2018 Mar;96(2):e156-e163. doi: 10.1111/aos.13557. Epub 2017 Sep 19.

PubMed [citation]
PMID:
28926202

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla ML, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A, Filippi M.

J Neurol. 2015 May;262(5):1216-27. doi: 10.1007/s00415-015-7696-5. Epub 2015 Mar 21.

PubMed [citation]
PMID:
25794858
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001307090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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