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GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 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:
RCV000998337.17

Allele description

GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1

Genes:
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • DCAF16:DDB1 and CUL4 associated factor 16 [Gene - OMIM - HGNC]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • ADGRA3:adhesion G protein-coupled receptor A3 [Gene - OMIM - HGNC]
  • BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
  • BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
  • CLRN2:clarin 2 [Gene - OMIM - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • FAM184B:family with sequence similarity 184 member B [Gene - OMIM - HGNC]
  • FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
  • FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
  • FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
  • GBA3:glucosylceramidase beta 3 (gene/pseudogene) [Gene - OMIM - HGNC]
  • LAP3:leucine aminopeptidase 3 [Gene - OMIM - HGNC]
  • LCORL:ligand dependent nuclear receptor corepressor like [Gene - OMIM - HGNC]
  • MED28:mediator complex subunit 28 [Gene - OMIM - HGNC]
  • NCAPG:non-SMC condensin I complex subunit G [Gene - OMIM - HGNC]
  • PACRGL:parkin coregulated like [Gene - HGNC]
  • KCNIP4:potassium voltage-gated channel interacting protein 4 [Gene - OMIM - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • QDPR:quinoid dihydropteridine reductase [Gene - OMIM - HGNC]
  • SLIT2:slit guidance ligand 2 [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4p15.33-15.2
Genomic location:
Chr4: 13529798 - 22750583 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1
HGVS:
NC_000004.11:g.(?_13529798)_(22750583_?)del
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001154346CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Apr 1, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001154346.23

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

Last Updated: Jun 17, 2024