U.S. flag

An official website of the United States government

GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)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:
RCV000626432.1

Allele description [Variation Report for GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1]

GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1

Genes:
  • NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
  • AKAP7:A-kinase anchoring protein 7 [Gene - OMIM - HGNC]
  • CTAGE9:CTAGE family member 9 [Gene - HGNC]
  • GPRC6A:G protein-coupled receptor class C group 6 member A [Gene - OMIM - HGNC]
  • HDDC2:HD domain containing 2 [Gene - HGNC]
  • KIAA0408:KIAA0408 [Gene - OMIM - HGNC]
  • L3MBTL3:L3MBTL histone methyl-lysine binding protein 3 [Gene - OMIM - HGNC]
  • MTCL3:MTCL family member 3 [Gene - HGNC]
  • NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [Gene - OMIM - HGNC]
  • RSPO3:R-spondin 3 [Gene - OMIM - HGNC]
  • RNF217-AS1:RNF217 antisense RNA 1 (head to head) [Gene - OMIM - HGNC]
  • ROS1:ROS proto-oncogene 1, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • RWDD1:RWD domain containing 1 [Gene - HGNC]
  • ARHGAP18:Rho GTPase activating protein 18 [Gene - OMIM - HGNC]
  • TBC1D32:TBC1 domain family member 32 [Gene - OMIM - HGNC]
  • TPD52L1:TPD52 like 1 [Gene - OMIM - HGNC]
  • TSPYL1:TSPY like 1 [Gene - OMIM - HGNC]
  • TSPYL4:TSPY like 4 [Gene - OMIM - HGNC]
  • ASF1A:anti-silencing function 1A histone chaperone [Gene - OMIM - HGNC]
  • ARG1:arginase 1 [Gene - OMIM - HGNC]
  • PKIB:cAMP-dependent protein kinase inhibitor beta [Gene - OMIM - HGNC]
  • CALHM4:calcium homeostasis modulator family member 4 [Gene - HGNC]
  • CALHM5:calcium homeostasis modulator family member 5 [Gene - HGNC]
  • CALHM6:calcium homeostasis modulator family member 6 [Gene - OMIM - HGNC]
  • CCN2:cellular communication network factor 2 [Gene - OMIM - HGNC]
  • CENPW:centromere protein W [Gene - OMIM - HGNC]
  • CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
  • C6orf58:chromosome 6 open reading frame 58 [Gene - HGNC]
  • CLVS2:clavesin 2 [Gene - OMIM - HGNC]
  • COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]
  • DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
  • DCBLD1:discoidin, CUB and LCCL domain containing 1 [Gene - HGNC]
  • ENPP1:ectonucleotide pyrophosphatase/phosphodiesterase 1 [Gene - OMIM - HGNC]
  • ENPP3:ectonucleotide pyrophosphatase/phosphodiesterase 3 [Gene - OMIM - HGNC]
  • EPB41L2:erythrocyte membrane protein band 4.1 like 2 [Gene - OMIM - HGNC]
  • ECHDC1:ethylmalonyl-CoA decarboxylase 1 [Gene - OMIM - HGNC]
  • FAM162B:family with sequence similarity 162 member B [Gene - HGNC]
  • FAM184A:family with sequence similarity 184 member A [Gene - HGNC]
  • FABP7:fatty acid binding protein 7 [Gene - OMIM - HGNC]
  • FRK:fyn related Src family tyrosine kinase [Gene - OMIM - HGNC]
  • GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
  • GOPC:golgi associated PDZ and coiled-coil motif containing [Gene - OMIM - HGNC]
  • HSF2:heat shock transcription factor 2 [Gene - OMIM - HGNC]
  • HS3ST5:heparan sulfate-glucosamine 3-sulfotransferase 5 [Gene - OMIM - HGNC]
  • HEY2:hes related family bHLH transcription factor with YRPW motif 2 [Gene - OMIM - HGNC]
  • HINT3:histidine triad nucleotide binding protein 3 [Gene - OMIM - HGNC]
  • HDAC2:histone deacetylase 2 [Gene - OMIM - HGNC]
  • KPNA5:karyopherin subunit alpha 5 [Gene - OMIM - HGNC]
  • LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
  • MAN1A1:mannosidase alpha class 1A member 1 [Gene - OMIM - HGNC]
  • MED23:mediator complex subunit 23 [Gene - OMIM - HGNC]
  • MCM9:minichromosome maintenance 9 homologous recombination repair factor [Gene - OMIM - HGNC]
  • MARCKS:myristoylated alanine rich protein kinase C substrate [Gene - OMIM - HGNC]
  • NCOA7:nuclear receptor coactivator 7 [Gene - OMIM - HGNC]
  • OR2A4:olfactory receptor family 2 subfamily A member 4 [Gene - HGNC]
  • PLN:phospholamban [Gene - OMIM - HGNC]
  • PTPRK:protein tyrosine phosphatase receptor type K [Gene - OMIM - HGNC]
  • RSPH4A:radial spoke head component 4A [Gene - OMIM - HGNC]
  • RFX6:regulatory factor X6 [Gene - OMIM - HGNC]
  • RNF146:ring finger protein 146 [Gene - OMIM - HGNC]
  • RNF217:ring finger protein 217 [Gene - OMIM - HGNC]
  • SERINC1:serine incorporator 1 [Gene - OMIM - HGNC]
  • SMLR1:small leucine rich protein 1 [Gene - HGNC]
  • NKAIN2:sodium/potassium transporting ATPase interacting 2 [Gene - OMIM - HGNC]
  • SLC35F1:solute carrier family 35 member F1 [Gene - OMIM - HGNC]
  • SMPDL3A:sphingomyelin phosphodiesterase acid like 3A [Gene - OMIM - HGNC]
  • SAMD3:sterile alpha motif domain containing 3 [Gene - OMIM - HGNC]
  • TRMT11:tRNA methyltransferase 11 homolog [Gene - HGNC]
  • THEMIS:thymocyte selection associated [Gene - OMIM - HGNC]
  • TRAPPC3L:trafficking protein particle complex subunit 3L [Gene - OMIM - HGNC]
  • TMEM200A:transmembrane protein 200A [Gene - HGNC]
  • TMEM244:transmembrane protein 244 [Gene - HGNC]
  • TRDN:triadin [Gene - OMIM - HGNC]
  • VGLL2:vestigial like family member 2 [Gene - OMIM - HGNC]
  • ZUP1:zinc finger containing ubiquitin peptidase 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q21-23.2
Genomic location:
Chr6: 112939290 - 132327952 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1
HGVS:

    Condition(s)

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000734822Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust
    no assertion criteria provided
    drug response
    (Nov 27, 2017)
    Condition: PARP Inhibitor response
    Drug reported used for: Cancer
    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, SCV000734822.1

    #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: Oct 14, 2023