GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1 AND not specified

Germline classification:: Pathogenic (1 submission)
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:: RCV003986623.1

Allele description [Variation Report for GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1]

GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1

Genes:

CD83:CD83 molecule [Gene - OMIM - HGNC]
GFOD1:Gfo/Idh/MocA-like oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
RANBP9:RAN binding protein 9 [Gene - OMIM - HGNC]
TBC1D7:TBC1 domain family member 7 [Gene - OMIM - HGNC]
ATXN1:ataxin 1 [Gene - OMIM - HGNC]
DTNBP1:dystrobrevin binding protein 1 [Gene - OMIM - HGNC]
GMPR:guanosine monophosphate reductase [Gene - OMIM - HGNC]
JARID2:jumonji and AT-rich interaction domain containing 2 [Gene - OMIM - HGNC]
MCUR1:mitochondrial calcium uniporter regulator 1 [Gene - OMIM - HGNC]
MYLIP:myosin regulatory light chain interacting protein [Gene - OMIM - HGNC]
NOL7:nucleolar protein 7 [Gene - OMIM - HGNC]
PHACTR1:phosphatase and actin regulator 1 [Gene - OMIM - HGNC]
RNF182:ring finger protein 182 [Gene - HGNC]
SIRT5:sirtuin 5 [Gene - OMIM - HGNC]
STMND1:stathmin domain containing 1 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6p24.1-22.3

Genomic location:

Chr6: 12872219 - 17276508 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1

HGVS:

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004802752	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (Constitutional Copy Number Variant Assertion Criteria)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004802752

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)

Pathogenic

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, SCV004802752.1

#	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 30, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1 AND not specified

Allele description [Variation Report for GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1]

GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1

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, SCV004802752.1