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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032184OMIM
no assertion criteria provided
Pathogenic
(Apr 15, 2002) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Oct 20, 2024