GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3 AND not specified

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:: RCV003986195.1

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3]

GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3

Genes:

GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
RTL10:retrotransposon Gag like 10 [Gene - OMIM - HGNC]
SEPTIN5:septin 5 [Gene - OMIM - HGNC]
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q11.21

Genomic location:

Chr22: 19651034 - 19879938 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3

HGVS:

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

protein O-glucosyltransferase 1 isoform X2 [Camelus ferus]
protein O-glucosyltransferase 1 isoform X2 [Camelus ferus]
gi|1810971017|ref|XP_032335730.1|

Protein
Homo sapiens ATAC-STARR-seq lymphoblastoid active region 4763 (LOC130005759) on ...
Homo sapiens ATAC-STARR-seq lymphoblastoid active region 4763 (LOC130005759) on chromosome 11
gi|2507481117|ref|NG_185204.1|

Nucleotide
Etheostoma serrifer isolate Eser cytochrome b (cytb) gene, partial cds; mitochon...
Etheostoma serrifer isolate Eser cytochrome b (cytb) gene, partial cds; mitochondrial
gi|238734565|gb|FJ937011.1|

Nucleotide
Homo sapiens solute carrier family 38 member 8 (SLC38A8), RefSeqGene on chromoso...
Homo sapiens solute carrier family 38 member 8 (SLC38A8), RefSeqGene on chromosome 16
gi|642945640|ref|NG_034136.1|

Nucleotide
ly6/PLAUR domain-containing protein 5 isoform B [Homo sapiens]
ly6/PLAUR domain-containing protein 5 isoform B [Homo sapiens]
gi|571026632|ref|NP_001275692.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004802324	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (Constitutional Copy Number Variant Assertion Criteria)	Uncertain significance	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004802324

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)

Uncertain significance

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802324.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 30, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3 AND not specified

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3]

GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802324.1