GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 AND Intellectual disability

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 11, 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:: RCV001638055.2

Allele description [Variation Report for GRCh37/hg19 Xq28(chrX:153194251-153623000)x2]

GRCh37/hg19 Xq28(chrX:153194251-153623000)x2

Genes:

NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
EMD:emerin [Gene - OMIM - HGNC]
FLNA:filamin A [Gene - OMIM - HGNC]
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
RENBP:renin binding protein [Gene - OMIM - HGNC]
TEX28:testis expressed 28 [Gene - OMIM - HGNC]
TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq28

Genomic location:

ChrX: 153194251 - 153623000 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq28(chrX:153194251-153623000)x2

HGVS:

Functional consequence:

effect on RNA abundance [Variation Ontology: 0010]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001502470	Human Genetics Laboratory, State University of Rio de Janeiro	no assertion criteria provided	Pathogenic (Mar 11, 2021)	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001502470

Human Genetics Laboratory, State University of Rio de Janeiro

no assertion criteria provided

Pathogenic
(Mar 11, 2021)

maternal

research

Help

Summary from all submissions

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

Details of each submission

From Human Genetics Laboratory, State University of Rio de Janeiro, SCV001502470.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	mixed	1	not provided	not provided	research	not provided

#	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: Sep 30, 2023

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