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NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 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:
RCV002318435.9

Allele description [Variation Report for NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)]

NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)

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.1957G>A (p.Ala653Thr)
HGVS:
  • NC_000023.11:g.123428020G>A
  • NG_009377.2:g.248778G>A
  • NM_000828.5:c.1957G>A
  • NM_007325.5:c.1957G>AMANE SELECT
  • NP_000819.3:p.Ala653Thr
  • NP_000819.4:p.Ala653Thr
  • NP_015564.5:p.Ala653Thr
  • NC_000023.10:g.122561871G>A
  • NM_000828.4:c.1957G>A
Protein change:
A653T
Links:
dbSNP: rs1057521721
NCBI 1000 Genomes Browser:
rs1057521721
Molecular consequence:
  • NM_000828.5:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007325.5:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000850755Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850755.5

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

Description

The p.A653T variant (also known as c.1957G>A), located in coding exon 12 of the GRIA3 gene, results from a G to A substitution at nucleotide position 1957. The alanine at codon 653 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 19, 2024