NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 9, 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:: RCV000622505.2

Allele description [Variation Report for NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)]

NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)

Gene:

GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq25

Genomic location:

Preferred name:

NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr)

HGVS:

NC_000023.11:g.123417403G>C
NG_009377.2:g.238161G>C
NM_000828.5:c.1502G>C
NM_007325.5:c.1502G>CMANE SELECT
NP_000819.3:p.Arg501Thr
NP_000819.4:p.Arg501Thr
NP_015564.5:p.Arg501Thr
NC_000023.10:g.122551254G>C
NM_000828.4:c.1502G>C

Protein change:

R501T

Links:

dbSNP: rs1556317780

NCBI 1000 Genomes Browser:

rs1556317780

Molecular consequence:

NM_000828.5:c.1502G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007325.5:c.1502G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Uromyces salsolae small subunit ribosomal RNA gene, partial sequence
Uromyces salsolae small subunit ribosomal RNA gene, partial sequence
gi|1917941702|gb|MW147080.1|

Nucleotide
Uromyces salsolae voucher BRIP 57696 28S ribosomal RNA gene, partial sequence
Uromyces salsolae voucher BRIP 57696 28S ribosomal RNA gene, partial sequence
gi|1209416706|gb|KX999901.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741277	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Feb 9, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741277

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Feb 9, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Glutamate receptor ion channels: structure, regulation, and function.

Traynelis SF, Wollmuth LP, McBain CJ, Menniti FS, Vance KM, Ogden KK, Hansen KB, Yuan H, Myers SJ, Dingledine R.

Pharmacol Rev. 2010 Sep;62(3):405-96. doi: 10.1124/pr.109.002451. Review. Erratum in: Pharmacol Rev. 2014 Oct;66(4):1141.

PubMed [citation]

PMID:: 20716669
PMCID:: PMC2964903

Details of each submission

From Ambry Genetics, SCV000741277.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jan 7, 2023

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