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

Clinical significance:Benign (Last evaluated: Dec 31, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000559186.4

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:
Open angle glaucoma (POAG)
Synonyms:
Primary open angle glaucoma
Identifiers:
MONDO: MONDO:0007665; MedGen: C0339573; OMIM: 137760; Human Phenotype Ontology: HP:0012108
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 (GLC1E)
Identifiers:
MedGen: C1842026

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000632379Invitaecriteria provided, single submitter
Benign
(Dec 31, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000632379.4

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

Last Updated: Nov 20, 2021

Support Center