U.S. flag

An official website of the United States government

NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 1, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000733423.31

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)]

NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)

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.2883C>T (p.Asn961=)
Other names:
p.N961N:AAC>AAT
HGVS:
  • NC_000016.10:g.9764661G>A
  • NG_011812.2:g.423094C>T
  • NM_000833.5:c.2883C>T
  • NM_001134407.3:c.2883C>TMANE SELECT
  • NM_001134408.2:c.2883C>T
  • NP_000824.1:p.Asn961=
  • NP_001127879.1:p.Asn961=
  • NP_001127880.1:p.Asn961=
  • NC_000016.9:g.9858518G>A
  • NG_011812.1:g.423094C>T
  • NM_000833.3:c.2883C>T
  • NM_000833.4:c.2883C>T
  • NM_001134407.2:c.2883C>T
Links:
dbSNP: rs77705198
NCBI 1000 Genomes Browser:
rs77705198
Molecular consequence:
  • NM_000833.5:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001134407.3:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001134408.2:c.2883C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000861491Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(Jun 7, 2018)
germlineclinical testing

Citation Link,

SCV001150795CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861491.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV001150795.22

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

GRIN2A: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jun 9, 2024