GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 AND See cases

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:: RCV004442797.1

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1]

GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1

Genes:

CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q11.21

Genomic location:

Chr22: 20730144 - 21464764 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1

HGVS:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004934035	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

SCV004934035

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, SCV004934035.1

#	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