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NM_007327.4(GRIN1):c.930C>T (p.Gly310=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 31, 2016
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:
RCV000425812.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.930C>T (p.Gly310=)]

NM_007327.4(GRIN1):c.930C>T (p.Gly310=)

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.930C>T (p.Gly310=)
HGVS:
  • NC_000009.12:g.137156999C>T
  • NG_011507.1:g.22843C>T
  • NM_000832.7:c.930C>T
  • NM_001185090.2:c.993C>T
  • NM_001185091.2:c.993C>T
  • NM_007327.4:c.930C>TMANE SELECT
  • NM_021569.4:c.930C>T
  • NP_000823.4:p.Gly310=
  • NP_001172019.1:p.Gly331=
  • NP_001172020.1:p.Gly331=
  • NP_015566.1:p.Gly310=
  • NP_067544.1:p.Gly310=
  • NC_000009.11:g.140051451C>T
  • NM_007327.3:c.930C>T
Links:
dbSNP: rs1057523802
NCBI 1000 Genomes Browser:
rs1057523802
Molecular consequence:
  • NM_000832.7:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185090.2:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185091.2:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007327.4:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021569.4:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000533358GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 31, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000533358.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022