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NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000260469.17

Allele description

NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)

Gene:
GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.2
Genomic location:
Preferred name:
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)
HGVS:
  • NC_000016.10:g.9822391G>A
  • NG_011812.2:g.365364C>T
  • NM_000833.5:c.2041C>T
  • NM_001134407.3:c.2041C>TMANE SELECT
  • NM_001134408.2:c.2041C>T
  • NP_000824.1:p.Arg681Ter
  • NP_001127879.1:p.Arg681Ter
  • NP_001127880.1:p.Arg681Ter
  • NC_000016.9:g.9916248G>A
  • NG_011812.1:g.365364C>T
  • NM_000833.3:c.2041C>T
Protein change:
R681*; ARG681TER
Links:
OMIM: 138253.0011; dbSNP: rs397518472
NCBI 1000 Genomes Browser:
rs397518472
Molecular consequence:
  • NM_000833.5:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134407.3:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134408.2:c.2041C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000329755GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 23, 2015) 		germlineclinical testing

Citation Link,

SCV002063489CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000329755.6

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

Description

The R681X nonsense variant in the GRIN2A gene has been reported previously in an individual with Landau-Kleffner syndrome; it was also identified in other family members with learning disabilities and in an unaffected relative (Lemke et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R681X as a pathogenic variant.

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

From CeGaT Center for Human Genetics Tuebingen, SCV002063489.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024