NM_007327.4(GRIN1):c.1012G>A (p.Val338Met) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Dec 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720532.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1012G>A (p.Val338Met)]

NM_007327.4(GRIN1):c.1012G>A (p.Val338Met)

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.1012G>A (p.Val338Met)
HGVS:
  • NC_000009.12:g.137158422G>A
  • NG_011507.1:g.24266G>A
  • NM_000832.7:c.1012G>A
  • NM_001185090.2:c.1075G>A
  • NM_001185091.2:c.1075G>A
  • NM_007327.4:c.1012G>AMANE SELECT
  • NM_021569.4:c.1012G>A
  • NP_000823.4:p.Val338Met
  • NP_001172019.1:p.Val359Met
  • NP_001172020.1:p.Val359Met
  • NP_015566.1:p.Val338Met
  • NP_067544.1:p.Val338Met
  • NC_000009.11:g.140052874G>A
  • NM_007327.3:c.1012G>A
  • p.Val338Met
Protein change:
V338M
Links:
dbSNP: rs140672142
NCBI 1000 Genomes Browser:
rs140672142
Molecular consequence:
  • NM_000832.7:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000851410Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000851410.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V338M variant (also known as c.1012G>A), located in coding exon 7 of the GRIN1 gene, results from a G to A substitution at nucleotide position 1012. The valine at codon 338 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 24, 2021

Support Center