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NM_001008212.2(OPTN):c.1103del (p.Met368fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2023
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:
RCV003798883.2

Allele description [Variation Report for NM_001008212.2(OPTN):c.1103del (p.Met368fs)]

NM_001008212.2(OPTN):c.1103del (p.Met368fs)

Gene:
OPTN:optineurin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
HGVS:
  • NC_000010.11:g.13125522del
  • NG_012876.1:g.30441del
  • NM_001008211.1:c.1103del
  • NM_001008212.2:c.1103delMANE SELECT
  • NM_001008213.1:c.1103del
  • NM_021980.4:c.1103del
  • NP_001008212.1:p.Met368fs
  • NP_001008213.1:p.Met368fs
  • NP_001008214.1:p.Met368fs
  • NP_068815.2:p.Met368fs
  • NC_000010.10:g.13167522del
Protein change:
M368fs
Molecular consequence:
  • NM_001008211.1:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001008212.2:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001008213.1:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021980.4:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Primary open angle glaucoma (POAG)
Synonyms:
OPTN-related open angle glaucoma
Identifiers:
MONDO: MONDO:0100553; MedGen: C0339573; OMIM: 137760
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
Name:
Glaucoma 1, open angle, E
Identifiers:
MedGen: C1842026

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004584154Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 20, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations of optineurin in amyotrophic lateral sclerosis.

Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, et al.

Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28.

PubMed [citation]
PMID:
20428114

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004584154.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Met368Serfs*19) in the OPTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024