NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) AND not provided

replaced

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 20, 2013
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:: RCV000125314.1

Allele description

NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=)

Gene:

GRIN2A:glutamate receptor, ionotropic, N-methyl D-aspartate 2A [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=)

HGVS:

NC_000016.10:g.9798443G>A
NG_011812.1:g.389312C>T
NM_000833.4:c.2190C>T
NP_000824.1:p.Tyr730=
NC_000016.9:g.9892300G>A
NM_000833.3:c.2190C>T
p.Y730Y:TAC>TAT

Links:

dbSNP: rs61753382

GMAF:

0.0050(A), 61753382

NCBI 1000 Genomes Browser:

rs61753382

Allele Frequency:

0.0081, GO-ESP

Molecular consequence:

NM_000833.3:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: Not Provided
Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000168759	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 20, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000168759

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Dec 20, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000168759.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The variant is found in INFANT-EPI,CHILD-EPI panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 2, 2015

ClinVar

Relating variation to medicine