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GRCh37/hg19 4p16.1(chr4:8683743-10358964) 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:
RCV002053406.3

Allele description [Variation Report for GRCh37/hg19 4p16.1(chr4:8683743-10358964)]

GRCh37/hg19 4p16.1(chr4:8683743-10358964)

Genes:
  • HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • DEFB131A:defensin beta 131A [Gene - HGNC]
  • DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • USP17L10:ubiquitin specific peptidase 17 like family member 10 [Gene - HGNC]
  • USP17L11:ubiquitin specific peptidase 17 like family member 11 [Gene - HGNC]
  • USP17L12:ubiquitin specific peptidase 17 like family member 12 [Gene - HGNC]
  • USP17L13:ubiquitin specific peptidase 17 like family member 13 [Gene - HGNC]
  • USP17L15:ubiquitin specific peptidase 17 like family member 15 [Gene - HGNC]
  • USP17L17:ubiquitin specific peptidase 17 like family member 17 [Gene - HGNC]
  • USP17L18:ubiquitin specific peptidase 17 like family member 18 [Gene - HGNC]
  • USP17L19:ubiquitin specific peptidase 17 like family member 19 [Gene - HGNC]
  • USP17L20:ubiquitin specific peptidase 17 like family member 20 [Gene - HGNC]
  • USP17L21:ubiquitin specific peptidase 17 like family member 21 [Gene - HGNC]
  • USP17L22:ubiquitin specific peptidase 17 like family member 22 [Gene - HGNC]
  • USP17L24:ubiquitin specific peptidase 17 like family member 24 [Gene - HGNC]
  • USP17L25:ubiquitin specific peptidase 17 like family member 25 [Gene - HGNC]
  • USP17L26:ubiquitin specific peptidase 17 like family member 26 [Gene - HGNC]
  • USP17L27:ubiquitin specific peptidase 17 like family member 27 [Gene - HGNC]
  • USP17L28:ubiquitin specific peptidase 17 like family member 28 [Gene - HGNC]
  • USP17L29:ubiquitin specific peptidase 17 like family member 29 [Gene - HGNC]
  • USP17L30:ubiquitin specific peptidase 17 like family member 30 [Gene - HGNC]
  • USP17L5:ubiquitin specific peptidase 17 like family member 5 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4p16.1
Genomic location:
Chr4: 8683743 - 10358964 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.1(chr4:8683743-10358964)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002320202ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Uncertain significance
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 15, 2022