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GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583) AND not specified

Germline classification:
Pathogenic (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:
RCV002052722.3

Allele description [Variation Report for GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)]

GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)

Genes:
  • ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
  • ADAMTS5:ADAM metallopeptidase with thrombospondin type 1 motif 5 [Gene - OMIM - HGNC]
  • ATP5PF:ATP synthase peripheral stalk subunit F6 [Gene - OMIM - HGNC]
  • BTG3:BTG anti-proliferation factor 3 [Gene - OMIM - HGNC]
  • CXADR:CXADR Ig-like cell adhesion molecule [Gene - OMIM - HGNC]
  • GABPA:GA binding protein transcription factor subunit alpha [Gene - OMIM - HGNC]
  • POTED:POTE ankyrin domain family member D [Gene - OMIM - HGNC]
  • RBM11:RNA binding motif protein 11 [Gene - OMIM - HGNC]
  • SAMSN1:SAM domain, SH3 domain and nuclear localization signals 1 [Gene - OMIM - HGNC]
  • APP:amyloid beta precursor protein [Gene - OMIM - HGNC]
  • CHODL:chondrolectin [Gene - OMIM - HGNC]
  • C21orf91:chromosome 21 open reading frame 91 [Gene - HGNC]
  • CYYR1:cysteine and tyrosine rich 1 [Gene - OMIM - HGNC]
  • HSPA13:heat shock protein family A (Hsp70) member 13 [Gene - OMIM - HGNC]
  • JAM2:junctional adhesion molecule 2 [Gene - OMIM - HGNC]
  • LIPI:lipase I [Gene - OMIM - HGNC]
  • MIR125B2:microRNA 125b-2 [Gene - OMIM - HGNC]
  • MIR155:microRNA 155 [Gene - OMIM - HGNC]
  • MIR99A:microRNA 99a [Gene - OMIM - HGNC]
  • MIRLET7C:microRNA let-7c [Gene - OMIM - HGNC]
  • MRPL39:mitochondrial ribosomal protein L39 [Gene - OMIM - HGNC]
  • NCAM2:neural cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • NRIP1:nuclear receptor interacting protein 1 [Gene - OMIM - HGNC]
  • TMPRSS15:transmembrane serine protease 15 [Gene - OMIM - HGNC]
  • USP25:ubiquitin specific peptidase 25 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
21q11.2-21.3
Genomic location:
Chr21: 15006457 - 28820583 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002319831ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

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

Citation Link

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, SCV002319831.1

#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