GRCh37/hg19 3p14.3(chr3:54608460-54891801)x1 AND See cases

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Germline classification:: Likely benign (1 submission)
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:: RCV000446042.1

Allele description

GRCh37/hg19 3p14.3(chr3:54608460-54891801)x1

Genes:: ESRG:embryonic stem cell related [Gene - OMIM - HGNC]
CACNA2D3:calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 3p14.3
Genomic location:: Chr3: 54608460 - 54891801 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 3p14.3(chr3:54608460-54891801)x1
HGVS:: NC_000003.11:g.(?_54608460)_(54891801_?)del
This HGVS expression did not pass validation
Links:: dbVar: nssv13651705; dbVar: nsv2774157
Observations:: 1

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
SCV000502143	ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories	no assertion criteria provided	Likely benign	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000502143

ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories

no assertion criteria provided

Likely benign

not provided

clinical testing

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502143.1

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Feb 20, 2022

ClinVar

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