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GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 13, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001005519.1

Allele description [Variation Report for GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1]

GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1

Genes:
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • GPR78:G protein-coupled receptor 78 [Gene - OMIM - HGNC]
  • GRPEL1:GrpE like 1, mitochondrial [Gene - OMIM - HGNC]
  • HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
  • HTRA3:HtrA serine peptidase 3 [Gene - OMIM - HGNC]
  • KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
  • LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
  • MRFAP1L1:Morf4 family associated protein 1 like 1 [Gene - HGNC]
  • MRFAP1:Morf4 family associated protein 1 [Gene - OMIM - HGNC]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
  • S100P:S100 calcium binding protein P [Gene - OMIM - HGNC]
  • SH3TC1:SH3 domain and tetratricopeptide repeats 1 [Gene - HGNC]
  • TBC1D14:TBC1 domain family member 14 [Gene - OMIM - HGNC]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • ABLIM2:actin binding LIM protein family member 2 [Gene - OMIM - HGNC]
  • AFAP1:actin filament associated protein 1 [Gene - OMIM - HGNC]
  • ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
  • BLOC1S4:biogenesis of lysosomal organelles complex 1 subunit 4 [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]
  • CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]
  • C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CCDC96:coiled-coil domain containing 96 [Gene - OMIM - HGNC]
  • CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • DEFB131A:defensin beta 131A [Gene - HGNC]
  • DRD5:dopamine receptor D5 [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]
  • HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
  • JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
  • MAN2B2:mannosidase alpha class 2B member 2 [Gene - OMIM - HGNC]
  • MIR95:microRNA 95 [Gene - OMIM - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • PSAPL1:prosaposin like 1 [Gene - HGNC]
  • PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [Gene - OMIM - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • SORCS2:sortilin related VPS10 domain containing receptor 2 [Gene - OMIM - HGNC]
  • TRMT44:tRNA methyltransferase 44 homolog [Gene - OMIM - HGNC]
  • TADA2B:transcriptional adaptor 2B [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [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]
  • WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
  • ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4p16.2-15.32
Genomic location:
Chr4: 5914109 - 17264668 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1
HGVS:
NC_000004.11:g.(?_5914109)_(17264668_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001165065Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Likely pathogenic
(Mar 13, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001165065.1

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

Last Updated: Mar 26, 2023