GRCh37/hg19 3q28(chr3:191045551-191070810)x1 AND not provided

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Germline classification:: Benign (1 submission)
Last evaluated:: Oct 13, 2010
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:: RCV000743061.2

Allele description

GRCh37/hg19 3q28(chr3:191045551-191070810)x1

Genes:: CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
UTS2B:urotensin 2B [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 3q28
Genomic location:: Chr3: 191045551 - 191070810 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 3q28(chr3:191045551-191070810)x1
HGVS:: NC_000003.11:g.(?_191045551)_(191070810_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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CXXC-type zinc finger protein 5 [Mus musculus]
CXXC-type zinc finger protein 5 [Mus musculus]
gi|19526854|ref|NP_598448.1|

Protein
cytochrome c oxidase assembly factor 1 homolog isoform a [Homo sapiens]
cytochrome c oxidase assembly factor 1 homolog isoform a [Homo sapiens]
gi|90855771|ref|NP_060694.2|

Protein
RecName: Full=Protein KIBRA; AltName: Full=Kidney and brain protein; Short=KIBRA...
RecName: Full=Protein KIBRA; AltName: Full=Kidney and brain protein; Short=KIBRA; AltName: Full=WW domain-containing protein 1
gi|81871931|sp|Q5SXA9.1|KIBRA_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000871397	Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center	no assertion criteria provided	Benign (Oct 13, 2010)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000871397

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center

no assertion criteria provided

Benign
(Oct 13, 2010)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000871397.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000295241.2)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	blood	not provided	(GTR000295241.2)	not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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