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GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2020
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:
RCV001281354.1

Allele description [Variation Report for GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1]

GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1

Genes:
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • NTAQ1:N-terminal glutamine amidase 1 [Gene - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q24.12-24.13
Genomic location:
Chr8: 121938227 - 125485728 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1
HGVS:
NC_000008.10:g.(121938227_?)_(?_125485728)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
SCV001468648HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
no assertion criteria provided
Uncertain significance
(Nov 12, 2020)
unknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001468648.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023