NM_139058.3(ARX):c.856G>A (p.Gly286Ser) AND Intellectual disability, X-linked, with or without seizures, arx-related

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 15, 2002
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:: RCV000011950.10

Allele description [Variation Report for NM_139058.3(ARX):c.856G>A (p.Gly286Ser)]

NM_139058.3(ARX):c.856G>A (p.Gly286Ser)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.856G>A (p.Gly286Ser)

HGVS:

NC_000023.11:g.25013139C>T
NG_008281.1:g.7810G>A
NM_139058.3:c.856G>AMANE SELECT
NP_620689.1:p.Gly286Ser
NC_000023.10:g.25031256C>T
NM_139058.2:c.856G>A
Q96QS3:p.Gly286Ser

Protein change:

G286S; GLY286SER

Links:

UniProtKB: Q96QS3#VAR_015671; OMIM: 300382.0014; dbSNP: rs28935479

NCBI 1000 Genomes Browser:

rs28935479

Molecular consequence:

NM_139058.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
Synonyms:: MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032184	OMIM	no assertion criteria provided	Pathogenic (Apr 15, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032184

OMIM

no assertion criteria provided

Pathogenic
(Apr 15, 2002)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, et al.

Hum Mol Genet. 2002 Apr 15;11(8):981-91.

PubMed [citation]

PMID:: 11971879

Details of each submission

From OMIM, SCV000032184.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with nonspecific X-linked mental retardation (XLID29; 300419), Bienvenu et al. (2002) identified an 856G-A transition in the ARX gene, which was predicted to result in a gly286-to-ser (G286S) substitution.

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

Last Updated: Oct 8, 2024

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