U.S. flag

An official website of the United States government

NM_001083619.3(GRIA2):c.1396G>T (p.Val466Phe) AND Neurodevelopmental disorder with language impairment and behavioral abnormalities

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2022
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:
RCV002287242.2

Allele description [Variation Report for NM_001083619.3(GRIA2):c.1396G>T (p.Val466Phe)]

NM_001083619.3(GRIA2):c.1396G>T (p.Val466Phe)

Gene:
GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_001083619.3(GRIA2):c.1396G>T (p.Val466Phe)
HGVS:
  • NC_000004.12:g.157335800G>T
  • NM_000826.6:c.1396G>T
  • NM_001083619.3:c.1396G>TMANE SELECT
  • NM_001083620.3:c.1255G>T
  • NM_001379000.3:c.1255G>T
  • NM_001379001.3:c.1255G>T
  • NP_000817.5:p.Val466Phe
  • NP_001077088.2:p.Val466Phe
  • NP_001077089.2:p.Val419Phe
  • NP_001365929.3:p.Val419Phe
  • NP_001365930.3:p.Val419Phe
  • NC_000004.11:g.158256952G>T
Protein change:
V419F
Molecular consequence:
  • NM_000826.6:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083619.3:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083620.3:c.1255G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379000.3:c.1255G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379001.3:c.1255G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with language impairment and behavioral abnormalities
Synonyms:
GRIA2-related neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0030060; MedGen: C5394502; OMIM: 618917

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002577474Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 27, 2022) 		paternalclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PM2, PP2, PP3

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

Last Updated: Oct 7, 2023