U.S. flag

An official website of the United States government

NM_007327.4(GRIN1):c.2443G>T (p.Gly815Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2019
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:
RCV001547452.2

Allele description [Variation Report for NM_007327.4(GRIN1):c.2443G>T (p.Gly815Trp)]

NM_007327.4(GRIN1):c.2443G>T (p.Gly815Trp)

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.2443G>T (p.Gly815Trp)
HGVS:
  • NC_000009.12:g.137163668G>T
  • NG_011507.1:g.29512G>T
  • NM_000832.7:c.2443G>T
  • NM_001185090.2:c.2506G>T
  • NM_001185091.2:c.2506G>T
  • NM_007327.4:c.2443G>TMANE SELECT
  • NM_021569.4:c.2443G>T
  • NP_000823.4:p.Gly815Trp
  • NP_001172019.1:p.Gly836Trp
  • NP_001172020.1:p.Gly836Trp
  • NP_015566.1:p.Gly815Trp
  • NP_067544.1:p.Gly815Trp
  • NC_000009.11:g.140058120G>T
  • NM_007327.3:c.2443G>T
Protein change:
G815W
Links:
dbSNP: rs797044925
NCBI 1000 Genomes Browser:
rs797044925
Molecular consequence:
  • NM_000832.7:c.2443G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.2506G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.2506G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.2443G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.2443G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001767161GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 11, 2019) 		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, SCV001767161.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. In addition, in silico predictors and evolutionary conservation suggest the missense change may have a deleterious effect on the protein. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024