GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2 AND not provided

Germline classification:: Uncertain significance (1 submission)
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:: RCV004442776.1

Allele description [Variation Report for GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2]

GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2

Genes:

LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
SPANXC:SPANX family member C [Gene - OMIM - HGNC]
SPANXD:SPANX family member D [Gene - OMIM - HGNC]
SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
CDR1:cerebellar degeneration related 1 [Gene - OMIM - HGNC]
SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq27.1-27.3

Genomic location:

ChrX: 139794153 - 145119351 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004934014	Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004934014

Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital, SCV004934014.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine