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NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001420360.8

Allele description [Variation Report for NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)]

NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)

Gene:
GRIA1:glutamate ionotropic receptor AMPA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.2
Genomic location:
Preferred name:
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
HGVS:
  • NC_000005.10:g.153764516G>A
  • NG_047078.1:g.279821G>A
  • NM_000827.4:c.1906G>AMANE SELECT
  • NM_001114183.2:c.1906G>A
  • NM_001258019.2:c.1666G>A
  • NM_001258020.2:c.1621G>A
  • NM_001258021.2:c.1936G>A
  • NM_001258022.2:c.1936G>A
  • NM_001258023.1:c.1699G>A
  • NM_001364165.2:c.1738G>A
  • NM_001364166.2:c.1933G>A
  • NM_001364167.2:c.1699G>A
  • NP_000818.2:p.Ala636Thr
  • NP_001107655.1:p.Ala636Thr
  • NP_001107655.1:p.Ala636Thr
  • NP_001244948.1:p.Ala556Thr
  • NP_001244949.1:p.Ala541Thr
  • NP_001244950.1:p.Ala646Thr
  • NP_001244951.1:p.Ala646Thr
  • NP_001244952.1:p.Ala567Thr
  • NP_001351094.1:p.Ala580Thr
  • NP_001351095.1:p.Ala645Thr
  • NP_001351096.1:p.Ala567Thr
  • NC_000005.9:g.153144076G>A
  • NM_000827.3:c.1906G>A
  • NM_001114183.1:c.1906G>A
  • NM_001114183.1:c.1906G>A
  • NR_047578.2:n.1987G>A
  • NR_157093.2:n.2125G>A
Protein change:
A541T; ALA636THR
Links:
OMIM: 138248.0001; dbSNP: rs587776937
NCBI 1000 Genomes Browser:
rs587776937
Molecular consequence:
  • NM_000827.4:c.1906G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114183.2:c.1906G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258019.2:c.1666G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258020.2:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258021.2:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258022.2:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258023.1:c.1699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364165.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364166.2:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364167.2:c.1699G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047578.2:n.1987G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_157093.2:n.2125G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622437Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand
no assertion criteria provided
Pathogenic
(May 17, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, et al.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

PubMed [citation]
PMID:
28628100
PMCID:
PMC5539915

Details of each submission

From Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand, SCV001622437.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

PS2 + PS3 + PM2 + PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024