NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) AND Amyotrophic Lateral Sclerosis, Recessive

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000301689.1

Allele description

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>A
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, Recessive
Identifiers:: MedGen: CN239196

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000361437	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000361437

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000361437.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 4, 2020

ClinVar

Relating variation to medicine