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NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Mar 12, 2021
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:
RCV000726029.10

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)]

NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)

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.2165C>T (p.Thr722Met)
HGVS:
  • NC_000016.10:g.9822267G>A
  • NG_011812.2:g.365488C>T
  • NM_000833.5:c.2165C>T
  • NM_001134407.3:c.2165C>TMANE SELECT
  • NM_001134408.2:c.2165C>T
  • NP_000824.1:p.Thr722Met
  • NP_001127879.1:p.Thr722Met
  • NP_001127880.1:p.Thr722Met
  • NC_000016.9:g.9916124G>A
  • NG_011812.1:g.365488C>T
  • NM_000833.3:c.2165C>T
  • NM_000833.4:c.2165C>T
Protein change:
T722M
Links:
dbSNP: rs376029542
NCBI 1000 Genomes Browser:
rs376029542
Molecular consequence:
  • NM_000833.5:c.2165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.2165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.2165C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000341339Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(May 11, 2016) 		germlineclinical testing

Citation Link,

SCV000566043GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 12, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000341339.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000566043.4

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

Description

This variant is associated with the following publications: (PMID: 28166811, 27839871, 30919572)

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

Last Updated: Sep 29, 2024