GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 2018
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:: RCV000845663.2

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1]

GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1

Genes:

AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [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]
ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
XKR5:XK related 5 [Gene - HGNC]
ANGPT2:angiopoietin 2 [Gene - OMIM - 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]
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]
ERICH1:glutamate rich 1 [Gene - HGNC]
KBTBD11:kelch repeat and BTB domain containing 11 [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]
PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
SPAG11A:sperm associated antigen 11A [Gene - HGNC]
SPAG11B:sperm associated antigen 11B [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 loss

Cytogenetic location:

8p23.3-23.1

Genomic location:

Chr8: 158048 - 9393052 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1

HGVS:

NC_000008.10:g.(?_158048)_(9393052_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000987784	Bionano Laboratories	no assertion criteria provided	Pathogenic (Sep 10, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000987784

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Sep 10, 2018)

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 Bionano Laboratories, SCV000987784.1

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

Last Updated: Mar 26, 2023

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