GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 3, 2016
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:: RCV000239409.2

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3]

GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3

Genes:

AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
XKR5:XK related 5 [Gene - HGNC]
XKR6:XK related 6 [Gene - HGNC]
ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
CTSB:cathepsin B [Gene - OMIM - HGNC]
C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
CLDN23:claudin 23 [Gene - OMIM - HGNC]
DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
DEFA1B:defensin alpha 1B [Gene - HGNC]
DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
DEFB103A:defensin beta 103A [Gene - HGNC]
DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
DEFB104A:defensin beta 104A [Gene - HGNC]
DEFB104B:defensin beta 104B [Gene - HGNC]
DEFB105A:defensin beta 105A [Gene - HGNC]
DEFB105B:defensin beta 105B [Gene - HGNC]
DEFB106A:defensin beta 106A [Gene - HGNC]
DEFB106B:defensin beta 106B [Gene - HGNC]
DEFB107A:defensin beta 107A [Gene - HGNC]
DEFB107B:defensin beta 107B [Gene - HGNC]
DEFB134:defensin beta 134 [Gene - HGNC]
DEFB135:defensin beta 135 [Gene - HGNC]
DEFB136:defensin beta 136 [Gene - HGNC]
DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
DEFB4B:defensin beta 4B [Gene - HGNC]
ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
ERICH1:glutamate rich 1 [Gene - HGNC]
KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
MYOM2:myomesin 2 [Gene - OMIM - HGNC]
MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
PRSS51:serine protease 51 [Gene - HGNC]
PRSS55:serine protease 55 [Gene - OMIM - HGNC]
SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
SPAG11A:sperm associated antigen 11A [Gene - HGNC]
SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
TNKS:tankyrase [Gene - OMIM - HGNC]
TDRP:testis development related protein [Gene - OMIM - HGNC]
USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
ZNF596:zinc finger protein 596 [Gene - HGNC]
ZNF705B:zinc finger protein 705B [Gene - HGNC]
ZNF705G:zinc finger protein 705G [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8p23.3-23.1

Genomic location:

Chr8: 164984 - 11860845 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3

HGVS:

Observations:

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
SCV000297776	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Pathogenic (May 3, 2016)	maternal	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16077733, 17940555, 26097203 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297776

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Pathogenic
(May 3, 2016)

maternal

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T.

Eur J Hum Genet. 2005 Oct;13(10):1131-6.

PubMed [citation]

PMID:: 16077733

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.

Eur J Hum Genet. 2008 Jan;16(1):18-27. Epub 2007 Oct 17.

PubMed [citation]

PMID:: 17940555

See all PubMed Citations (3)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000297776.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

Patient also had 4p16.3p16.1(49,450-8,872,474)x1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	Fetal Tissue	not provided		1	not provided	1	not provided

Last Updated: Sep 1, 2024

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