GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 16, 2018
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:: RCV000762736.3

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1]

GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)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]
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]
ERICH1:glutamate rich 1 [Gene - HGNC]
KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
MYOM2:myomesin 2 [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]
USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
ZNF596:zinc finger protein 596 [Gene - HGNC]
ZNF705G:zinc finger protein 705G [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

8p23.3-23.1

Genomic location:

Chr8: 176814 - 7753583 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1

HGVS:

NC_000008.10:g.(?_176814)_(7753583_?)del

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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PREDICTED: E3 ubiquitin-protein ligase RNF19B isoform X1 [Mandrillus leucophaeus...
PREDICTED: E3 ubiquitin-protein ligase RNF19B isoform X1 [Mandrillus leucophaeus]
gi|795102316|ref|XP_011829471.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000893072	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely pathogenic (May 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000893072

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely pathogenic
(May 16, 2018)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000893072.2

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

Last Updated: Mar 26, 2023

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