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GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 AND Poly (ADP-Ribose) polymerase inhibitor response

Germline classification:
drug response (1 submission)
Last evaluated:
Nov 27, 2017
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:
RCV000626443.1

Allele description [Variation Report for GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1]

GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1

Genes:
  • AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
  • ATP12A:ATPase H+/K+ transporting non-gastric alpha2 subunit [Gene - OMIM - HGNC]
  • ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
  • BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • FRY:FRY microtubule binding protein [Gene - OMIM - HGNC]
  • GPR12:G protein-coupled receptor 12 [Gene - OMIM - HGNC]
  • GSX1:GS homeobox 1 [Gene - OMIM - HGNC]
  • N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
  • N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
  • PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
  • RASL11A:RAS like family 11 member A [Gene - OMIM - HGNC]
  • POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
  • STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
  • TNFRSF19:TNF receptor superfamily member 19 [Gene - OMIM - HGNC]
  • WASF3:WASP family member 3 [Gene - OMIM - HGNC]
  • ALOX5AP:arachidonate 5-lipoxygenase activating protein [Gene - OMIM - HGNC]
  • B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]
  • CDX2:caudal type homeobox 2 [Gene - OMIM - HGNC]
  • CENPJ:centromere protein J [Gene - OMIM - HGNC]
  • CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
  • FLT1:fms related receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • GTF3A:general transcription factor IIIA [Gene - OMIM - HGNC]
  • HSPH1:heat shock protein family H (Hsp110) member 1 [Gene - OMIM - HGNC]
  • HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]
  • KATNAL1:katanin catalytic subunit A1 like 1 [Gene - OMIM - HGNC]
  • KL:klotho [Gene - OMIM - HGNC]
  • LNX2:ligand of numb-protein X 2 [Gene - OMIM - HGNC]
  • LINC00427:long intergenic non-protein coding RNA 427 [Gene - HGNC]
  • LINC00543:long intergenic non-protein coding RNA 543 [Gene - HGNC]
  • MEDAG:mesenteric estrogen dependent adipogenesis [Gene - HGNC]
  • MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • MTIF3:mitochondrial translational initiation factor 3 [Gene - OMIM - HGNC]
  • MTMR6:myotubularin related protein 6 [Gene - OMIM - HGNC]
  • NUP58:nucleoporin 58 [Gene - OMIM - HGNC]
  • PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
  • PABPC3:poly(A) binding protein cytoplasmic 3 [Gene - OMIM - HGNC]
  • PAN3:poly(A) specific ribonuclease subunit PAN3 [Gene - OMIM - HGNC]
  • PARP4:poly(ADP-ribose) polymerase family member 4 [Gene - OMIM - HGNC]
  • PCOTH:prostate and testis expressed opposite C1QTNF9B and MIPEP [Gene - OMIM - HGNC]
  • POMP:proteasome maturation protein [Gene - OMIM - HGNC]
  • RXFP2:relaxin family peptide receptor 2 [Gene - OMIM - HGNC]
  • RPL21:ribosomal protein L21 [Gene - OMIM - HGNC]
  • RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
  • RNF6:ring finger protein 6 [Gene - OMIM - HGNC]
  • SHISA2:shisa family member 2 [Gene - OMIM - HGNC]
  • SLC46A3:solute carrier family 46 member 3 [Gene - OMIM - HGNC]
  • SLC7A1:solute carrier family 7 member 1 [Gene - OMIM - HGNC]
  • SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
  • TEX26:testis expressed 26 [Gene - HGNC]
  • UBL3:ubiquitin like 3 [Gene - OMIM - HGNC]
  • USP12:ubiquitin specific peptidase 12 [Gene - OMIM - HGNC]
  • USPL1:ubiquitin specific peptidase like 1 [Gene - OMIM - HGNC]
  • URAD:ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Gene - OMIM - HGNC]
  • ZAR1L:zygote arrest 1 like [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q12.12-13.2
Genomic location:
Chr13: 24080918 - 34361992 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1
HGVS:

    Condition(s)

    Name:
    Poly (ADP-Ribose) polymerase inhibitor response
    Synonyms:
    PARP Inhibitor response
    Identifiers:
    MedGen: CN322715

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000734833Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust
    no assertion criteria provided
    drug response
    (Nov 27, 2017)
    Condition: PARP Inhibitor response
    somaticclinical testing

    Summary from all submissions

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

    Details of each submission

    From Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust, SCV000734833.1

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

    Last Updated: Sep 1, 2024