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GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 6, 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:
RCV001006152.1

Allele description [Variation Report for GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1]

GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1

Genes:
  • TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
  • GFUS:GDP-L-fucose synthase [Gene - OMIM - HGNC]
  • GLI4:GLI family zinc finger 4 [Gene - OMIM - HGNC]
  • JRK:Jrk helix-turn-helix protein [Gene - OMIM - HGNC]
  • LYPD2:LY6/PLAUR domain containing 2 [Gene - HGNC]
  • LYNX1:Ly6/neurotoxin 1 [Gene - OMIM - HGNC]
  • MAFA:MAF bZIP transcription factor A [Gene - OMIM - HGNC]
  • ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
  • ARC:activity regulated cytoskeleton associated protein [Gene - OMIM - HGNC]
  • ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
  • CCDC166:coiled-coil domain containing 166 [Gene - HGNC]
  • CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]
  • EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
  • FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
  • GSDMD:gasdermin D [Gene - OMIM - HGNC]
  • GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
  • GML:glycosylphosphatidylinositol anchored molecule like [Gene - OMIM - HGNC]
  • LINC02904:long intergenic non-protein coding RNA 2904 [Gene - HGNC]
  • LY6D:lymphocyte antigen 6 family member D [Gene - OMIM - HGNC]
  • LY6E:lymphocyte antigen 6 family member E [Gene - OMIM - HGNC]
  • LY6H:lymphocyte antigen 6 family member H [Gene - OMIM - HGNC]
  • LY6K:lymphocyte antigen 6 family member K [Gene - OMIM - HGNC]
  • MROH6:maestro heat like repeat family member 6 [Gene - HGNC]
  • MAPK15:mitogen-activated protein kinase 15 [Gene - OMIM - HGNC]
  • NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • NRBP2:nuclear receptor binding protein 2 [Gene - OMIM - HGNC]
  • PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
  • PSCA:prostate stem cell antigen [Gene - OMIM - HGNC]
  • PYCR3:pyrroline-5-carboxylate reductase 3 [Gene - OMIM - HGNC]
  • RHPN1:rhophilin Rho GTPase binding protein 1 [Gene - OMIM - HGNC]
  • SCRIB:scribble planar cell polarity protein [Gene - OMIM - HGNC]
  • SLURP1:secreted LY6/PLAUR domain containing 1 [Gene - OMIM - HGNC]
  • THEM6:thioesterase superfamily member 6 [Gene - HGNC]
  • TIGD5:tigger transposable element derived 5 [Gene - HGNC]
  • ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
  • ZNF623:zinc finger protein 623 [Gene - HGNC]
  • ZNF696:zinc finger protein 696 [Gene - HGNC]
  • ZNF707:zinc finger protein 707 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q24.3
Genomic location:
Chr8: 143616831 - 144930611 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1
HGVS:
NC_000008.10:g.(?_143616831)_(144930611_?)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
SCV001165710Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Mar 6, 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, SCV001165710.1

#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