NM_139058.3(ARX):c.1204G>A (p.Gly402Arg) AND Intellectual disability, X-linked, with or without seizures, arx-related

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 29, 2020
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:: RCV001194621.2

Allele description [Variation Report for NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)]

NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)

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.1204G>A (p.Gly402Arg)

HGVS:

NC_000023.11:g.25007355C>T
NG_008281.1:g.13594G>A
NM_139058.3:c.1204G>AMANE SELECT
NP_620689.1:p.Gly402Arg
NC_000023.10:g.25025472C>T

Protein change:

G402R

Links:

dbSNP: rs2048682884

NCBI 1000 Genomes Browser:

rs2048682884

Molecular consequence:

NM_139058.3:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338854	Neurogenetics Research Program, University of Adelaide	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 29, 2020)	inherited	research	PubMed (2) [See all records that cite these PMIDs] 33847015, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001338854

Neurogenetics Research Program, University of Adelaide

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jan 29, 2020)

inherited

research

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	inherited	no	6	1	not provided	not provided	not provided	research

Citations

PubMed

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Field MJ, Kumar R, Hackett A, Kayumi S, Shoubridge CA, Ewans LJ, Ivancevic AM, Dudding-Byth T, Carroll R, Kroes T, Gardner AE, Sullivan P, Ha TT, Schwartz CE, Cowley MJ, Dinger ME, Palmer EE, Christie L, Shaw M, Roscioli T, Gecz J, Corbett MA.

Hum Mutat. 2021 Jul;42(7):835-847. doi: 10.1002/humu.24207. Epub 2021 May 3.

PubMed [citation]

PMID:: 33847015

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 Neurogenetics Research Program, University of Adelaide, SCV001338854.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	yes	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	no	not provided	not provided	not provided		6	not provided	1	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine