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NM_007327.4(GRIN1):c.2468G>A (p.Gly823Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 4, 2018
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:
RCV001751877.2

Allele description [Variation Report for NM_007327.4(GRIN1):c.2468G>A (p.Gly823Asp)]

NM_007327.4(GRIN1):c.2468G>A (p.Gly823Asp)

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.2468G>A (p.Gly823Asp)
HGVS:
  • NC_000009.12:g.137163783G>A
  • NG_011507.1:g.29627G>A
  • NM_000832.7:c.2468G>A
  • NM_001185090.2:c.2531G>A
  • NM_001185091.2:c.2531G>A
  • NM_007327.4:c.2468G>AMANE SELECT
  • NM_021569.4:c.2468G>A
  • NP_000823.4:p.Gly823Asp
  • NP_001172019.1:p.Gly844Asp
  • NP_001172020.1:p.Gly844Asp
  • NP_015566.1:p.Gly823Asp
  • NP_067544.1:p.Gly823Asp
  • NC_000009.11:g.140058235G>A
  • NM_007327.3:c.2468G>A
Protein change:
G823D
Links:
dbSNP: rs2131303171
NCBI 1000 Genomes Browser:
rs2131303171
Molecular consequence:
  • NM_000832.7:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.2531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.2531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001986542GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 4, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986542.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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

Last Updated: Dec 24, 2023