NC_000023.10:g.(?_99551275)_(101097764_?)dup AND Developmental and epileptic encephalopathy, 9

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 2022
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:: RCV003109223.2

Allele description

NC_000023.10:g.(?_99551275)_(101097764_?)dup

Genes:

ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
XKRX:XK related X-linked [Gene - OMIM - HGNC]
ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
ARMCX6:armadillo repeat containing X-linked 6 [Gene - OMIM - HGNC]
CENPI:centromere protein I [Gene - OMIM - HGNC]
CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
TNMD:tenomodulin [Gene - OMIM - HGNC]
TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
TMEM35A:transmembrane protein 35A [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq22.1

Genomic location:

ChrX: 99551275 - 101097764 (on Assembly GRCh37)

Preferred name:

NC_000023.10:g.(?_99551275)_(101097764_?)dup

HGVS:

NC_000023.10:g.(?_99551275)_(101097764_?)dup

Condition(s)

Name:: Developmental and epileptic encephalopathy, 9 (DEE9)
Synonyms:: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010246; MedGen: C1848137; Orphanet: 2076; OMIM: 300088

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003792448	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003792448

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 1, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003792448.1

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the PCDH19 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 11, 2023

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Relating variation to medicine