NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) AND Amyotrophic lateral sclerosis type 12

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000301689.2

Allele description [Variation Report for NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)]

NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)

Gene:
OPTN:optineurin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
HGVS:
  • NC_000010.11:g.13136766G>A
  • NG_012876.1:g.41685G>A
  • NM_001008211.1:c.1634G>A
  • NM_001008212.2:c.1634G>AMANE SELECT
  • NM_001008213.1:c.1634G>A
  • NM_021980.4:c.1634G>A
  • NP_001008212.1:p.Arg545Gln
  • NP_001008213.1:p.Arg545Gln
  • NP_001008214.1:p.Arg545Gln
  • NP_068815.2:p.Arg545Gln
  • NC_000010.10:g.13178766G>A
Protein change:
R545Q; ARG545GLN
Links:
OMIM: 602432.0003; dbSNP: rs75654767
NCBI 1000 Genomes Browser:
rs75654767
Molecular consequence:
  • NM_001008211.1:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008212.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001008213.1:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021980.4:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 12 (ALS12)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Identifiers:
MONDO: MONDO:0013264; MedGen: C3150692; Orphanet: 803; OMIM: 613435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000361437Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (6)
[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

Optineurin mutations in Japanese amyotrophic lateral sclerosis.

Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, Kubo M, Nakamura Y, Ikegawa S.

J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):233-5. doi: 10.1136/jnnp.2010.234963. Epub 2011 Jan 8. No abstract available.

PubMed [citation]
PMID:
21217154

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.

Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.

Neurobiol Aging. 2013 May;34(5):1516.e9-15. doi: 10.1016/j.neurobiolaging.2012.09.007. Epub 2012 Oct 10.

PubMed [citation]
PMID:
23062601
See all PubMed Citations (6)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000361437.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 27, 2021

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