NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 15, 2017
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:: RCV000622498.3

Allele description [Variation Report for NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)]

NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)

Gene:

GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)

Other names:

GRIN1, GLY620ARG, 1858G-C

HGVS:

NC_000009.12:g.137162510G>C
NG_011507.1:g.28354G>C
NM_000832.7:c.1858G>C
NM_001185090.2:c.1921G>C
NM_001185091.2:c.1921G>C
NM_007327.4:c.1858G>CMANE SELECT
NM_021569.4:c.1858G>C
NP_000823.4:p.Gly620Arg
NP_001172019.1:p.Gly641Arg
NP_001172020.1:p.Gly641Arg
NP_015566.1:p.Gly620Arg
NP_067544.1:p.Gly620Arg
NC_000009.11:g.140056962G>C
NM_007327.3:c.1858G>C

Protein change:

G620R; GLY620ARG

Links:

OMIM: 138249.0012; dbSNP: rs797045047

NCBI 1000 Genomes Browser:

rs797045047

Molecular consequence:

NM_000832.7:c.1858G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001185090.2:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001185091.2:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007327.4:c.1858G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021569.4:c.1858G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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
SCV000742522	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (May 15, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27164704, 20716669, 22246434 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742522

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(May 15, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, et al.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

PubMed [citation]

PMID:: 27164704
PMCID:: PMC4898312

Glutamate receptor ion channels: structure, regulation, and function.

Traynelis SF, Wollmuth LP, McBain CJ, Menniti FS, Vance KM, Ogden KK, Hansen KB, Yuan H, Myers SJ, Dingledine R.

Pharmacol Rev. 2010 Sep;62(3):405-96. doi: 10.1124/pr.109.002451. Review. Erratum in: Pharmacol Rev. 2014 Oct;66(4):1141.

PubMed [citation]

PMID:: 20716669
PMCID:: PMC2964903

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000742522.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Apr 15, 2024

ClinVar

Relating variation to medicine