NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) AND Syndromic X-linked intellectual disability 94

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 6, 2017
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:: RCV000496189.2

Allele description [Variation Report for NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)]

NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)

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.1964T>C (p.Phe655Ser)

HGVS:

NC_000023.11:g.123428027T>C
NG_009377.2:g.248785T>C
NM_000828.5:c.1964T>C
NM_007325.5:c.1964T>CMANE SELECT
NP_000819.4:p.Phe655Ser
NP_015564.5:p.Phe655Ser
NC_000023.10:g.122561878T>C
NM_007325.4:c.1964T>C

Protein change:

F655S

Links:

dbSNP: rs1135401788

NCBI 1000 Genomes Browser:

rs1135401788

Molecular consequence:

NM_000828.5:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007325.5:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Syndromic X-linked intellectual disability 94 (MRXSW)
Synonyms:: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29
Identifiers:: MONDO: MONDO:0010402; MedGen: C2678051; OMIM: 300699

Recent activity

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Mus musculus GTPase, IMAP family member 1 (Gimap1), transcript variant 2, mRNA
Mus musculus GTPase, IMAP family member 1 (Gimap1), transcript variant 2, mRNA
gi|56549085|ref|NM_175860.2|

Nucleotide
Chain B, RHO GTPASE-ACTIVATING PROTEIN 7
Chain B, RHO GTPASE-ACTIVATING PROTEIN 7
gi|1023176353|pdb|5FZT|B

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586741	Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 6, 2017)	maternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 28708303

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000586741

Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 6, 2017)

maternal

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, et al.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PubMed [citation]

PMID:: 28708303

Details of each submission

From Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris, SCV000586741.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Intellectual disability, severe; hypotonia

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

Last Updated: Aug 5, 2023

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