NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Dec 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001265679.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)]

NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)

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.1852G>C (p.Gly618Arg)
HGVS:
  • NC_000009.12:g.137162504G>C
  • NG_011507.1:g.28348G>C
  • NM_000832.7:c.1852G>C
  • NM_001185090.2:c.1915G>C
  • NM_001185091.2:c.1915G>C
  • NM_007327.4:c.1852G>CMANE SELECT
  • NM_021569.4:c.1852G>C
  • NP_000823.4:p.Gly618Arg
  • NP_001172019.1:p.Gly639Arg
  • NP_001172020.1:p.Gly639Arg
  • NP_015566.1:p.Gly618Arg
  • NP_067544.1:p.Gly618Arg
  • NC_000009.11:g.140056956G>C
  • NM_007327.3:c.1852G>C
Protein change:
G618R
Molecular consequence:
  • NM_000832.7:c.1852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1852G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001443846Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 11, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American/Hispanicgermlineyes1not providednot provided1not providedclinical 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

Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy.

Opella SJ, Marassi FM, Gesell JJ, Valente AP, Kim Y, Oblatt-Montal M, Montal M.

Nat Struct Biol. 1999 Apr;6(4):374-9.

PubMed [citation]
PMID:
10201407
PMCID:
PMC3282055
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV001443846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American/Hispanic1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 17, 2021

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