GRCh37/hg19 16q23.2(chr16:80228506-81280700) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV002052547.3

Allele description [Variation Report for GRCh37/hg19 16q23.2(chr16:80228506-81280700)]

GRCh37/hg19 16q23.2(chr16:80228506-81280700)

Genes:

ATMIN:ATM interactor [Gene - OMIM - HGNC]
CMC2:C-X9-C motif containing 2 [Gene - HGNC]
BCO1:beta-carotene oxygenase 1 [Gene - OMIM - HGNC]
CENPN:centromere protein N [Gene - OMIM - HGNC]
CDYL2:chromodomain Y like 2 [Gene - OMIM - HGNC]
C16orf46:chromosome 16 open reading frame 46 [Gene - HGNC]
DYNLRB2:dynein light chain roadblock-type 2 [Gene - OMIM - HGNC]
GCSH:glycine cleavage system protein H [Gene - OMIM - HGNC]
PKD1L2:polycystin 1 like 2 (gene/pseudogene) [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

16q23.2

Genomic location:

Chr16: 80228506 - 81280700 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q23.2(chr16:80228506-81280700)

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Mus musculus LETM1 domain containing 1 (Letmd1), transcript variant X...
PREDICTED: Mus musculus LETM1 domain containing 1 (Letmd1), transcript variant X6, mRNA
gi|1907114000|ref|XM_030248726.2|

Nucleotide
PREDICTED: Homo sapiens zinc finger protein 692 (ZNF692), transcript variant X3,...
PREDICTED: Homo sapiens zinc finger protein 692 (ZNF692), transcript variant X3, mRNA
gi|2217268992|ref|XM_011544222.2|

Nucleotide
dicarboxylate/amino acid:cation symporter [Methanocorpusculum labreanum]
dicarboxylate/amino acid:cation symporter [Methanocorpusculum labreanum]
gi|500158772|ref|WP_011833442.1|

Protein
small EDRK-rich factor 1 isoform 1 [Homo sapiens]
small EDRK-rich factor 1 isoform 1 [Homo sapiens]
gi|11415046|ref|NP_068802.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002319656	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Uncertain significance (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002319656

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Uncertain significance
(Mar 1, 2022)

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, SCV002319656.1

#	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 26, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 16q23.2(chr16:80228506-81280700) AND not specified

Allele description [Variation Report for GRCh37/hg19 16q23.2(chr16:80228506-81280700)]

GRCh37/hg19 16q23.2(chr16:80228506-81280700)

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, SCV002319656.1