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GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000240182.2

Allele description [Variation Report for GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1]

GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1

Genes:
  • BCL3:BCL3 transcription coactivator [Gene - OMIM - HGNC]
  • CD177:CD177 molecule [Gene - OMIM - HGNC]
  • CEACAM16:CEA cell adhesion molecule 16, tectorial membrane component [Gene - OMIM - HGNC]
  • CEACAM19:CEA cell adhesion molecule 19 [Gene - OMIM - HGNC]
  • CEACAM1:CEA cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • CEACAM20:CEA cell adhesion molecule 20 [Gene - HGNC]
  • CEACAM8:CEA cell adhesion molecule 8 [Gene - OMIM - HGNC]
  • CLASRP:CLK4 associating serine/arginine rich protein [Gene - OMIM - HGNC]
  • CLPTM1:CLPTM1 regulator of GABA type A receptor forward trafficking [Gene - OMIM - HGNC]
  • CBLC:Cbl proto-oncogene C [Gene - OMIM - HGNC]
  • DMWD:DM1 locus, WD repeat containing [Gene - OMIM - HGNC]
  • DMPK:DM1 protein kinase [Gene - OMIM - HGNC]
  • EML2:EMAP like 2 [Gene - OMIM - HGNC]
  • ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
  • ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
  • ETHE1:ETHE1 persulfide dioxygenase [Gene - OMIM - HGNC]
  • FBXO46:F-box protein 46 [Gene - OMIM - HGNC]
  • FOSB:FosB proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GNG8:G protein subunit gamma 8 [Gene - HGNC]
  • GPR4:G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • IGFL1:IGF like family member 1 [Gene - OMIM - HGNC]
  • IGFL2:IGF like family member 2 [Gene - OMIM - HGNC]
  • IGFL3:IGF like family member 3 [Gene - OMIM - HGNC]
  • IGFL4:IGF like family member 4 [Gene - OMIM - HGNC]
  • LYPD3:LY6/PLAUR domain containing 3 [Gene - OMIM - HGNC]
  • LYPD5:LY6/PLAUR domain containing 5 [Gene - OMIM - HGNC]
  • MYPOP:Myb related transcription factor, partner of profilin [Gene - OMIM - HGNC]
  • NOVA2:NOVA alternative splicing regulator 2 [Gene - OMIM - HGNC]
  • NKPD1:NTPase KAP family P-loop domain containing 1 [Gene - HGNC]
  • PNMA8A:PNMA family member 8A [Gene - HGNC]
  • PNMA8B:PNMA family member 8B [Gene - HGNC]
  • PPP5D1:PPP5 tetratricopeptide repeat domain containing 1 [Gene - HGNC]
  • PVR:PVR cell adhesion molecule [Gene - OMIM - HGNC]
  • RELB:RELB proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • POLR1G:RNA polymerase I subunit G [Gene - OMIM - HGNC]
  • SIX5:SIX homeobox 5 [Gene - OMIM - HGNC]
  • SMG9:SMG9 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • XRCC1:X-ray repair cross complementing 1 [Gene - OMIM - HGNC]
  • APOC1:apolipoprotein C1 [Gene - OMIM - HGNC]
  • APOC2:apolipoprotein C2 [Gene - OMIM - HGNC]
  • APOC4:apolipoprotein C4 [Gene - OMIM - HGNC]
  • APOE:apolipoprotein E [Gene - OMIM - HGNC]
  • BCAM:basal cell adhesion molecule (Lutheran blood group) [Gene - OMIM - HGNC]
  • BLOC1S3:biogenesis of lysosomal organelles complex 1 subunit 3 [Gene - OMIM - HGNC]
  • CALM3:calmodulin 3 [Gene - OMIM - HGNC]
  • CADM4:cell adhesion molecule 4 [Gene - OMIM - HGNC]
  • CCDC61:coiled-coil domain containing 61 [Gene - HGNC]
  • CCDC8:coiled-coil domain containing 8 [Gene - OMIM - HGNC]
  • CKM:creatine kinase, M-type [Gene - OMIM - HGNC]
  • DACT3:dishevelled binding antagonist of beta catenin 3 [Gene - OMIM - HGNC]
  • EXOC3L2:exocyst complex component 3 like 2 [Gene - OMIM - HGNC]
  • FOXA3:forkhead box A3 [Gene - OMIM - HGNC]
  • GIPR:gastric inhibitory polypeptide receptor [Gene - OMIM - HGNC]
  • GEMIN7:gem nuclear organelle associated protein 7 [Gene - OMIM - HGNC]
  • QPCTL:glutaminyl-peptide cyclotransferase like [Gene - HGNC]
  • HIF3A:hypoxia inducible factor 3 subunit alpha [Gene - OMIM - HGNC]
  • IRGQ:immunity related GTPase Q [Gene - HGNC]
  • IRGC:immunity related GTPase cinema [Gene - HGNC]
  • IGSF23:immunoglobulin superfamily member 23 [Gene - HGNC]
  • IRF2BP1:interferon regulatory factor 2 binding protein 1 [Gene - OMIM - HGNC]
  • KLC3:kinesin light chain 3 [Gene - OMIM - HGNC]
  • MARK4:microtubule affinity regulating kinase 4 [Gene - OMIM - HGNC]
  • NANOS2:nanos C2HC-type zinc finger 2 [Gene - OMIM - HGNC]
  • NECTIN2:nectin cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]
  • PRG1:p53-responsive gene 1 [Gene - OMIM]
  • PGLYRP1:peptidoglycan recognition protein 1 [Gene - OMIM - HGNC]
  • PINLYP:phospholipase A2 inhibitor and LY6/PLAUR domain containing [Gene - HGNC]
  • PLAUR:plasminogen activator, urokinase receptor [Gene - OMIM - HGNC]
  • PHLDB3:pleckstrin homology like domain family B member 3 [Gene - HGNC]
  • KCNN4:potassium calcium-activated channel subfamily N member 4 [Gene - OMIM - HGNC]
  • PSG11:pregnancy specific beta-1-glycoprotein 11 [Gene - OMIM - HGNC]
  • PSG1:pregnancy specific beta-1-glycoprotein 1 [Gene - OMIM - HGNC]
  • PSG2:pregnancy specific beta-1-glycoprotein 2 [Gene - OMIM - HGNC]
  • PSG3:pregnancy specific beta-1-glycoprotein 3 [Gene - OMIM - HGNC]
  • PSG4:pregnancy specific beta-1-glycoprotein 4 [Gene - OMIM - HGNC]
  • PSG5:pregnancy specific beta-1-glycoprotein 5 [Gene - OMIM - HGNC]
  • PSG6:pregnancy specific beta-1-glycoprotein 6 [Gene - OMIM - HGNC]
  • PSG7:pregnancy specific beta-1-glycoprotein 7 [Gene - OMIM - HGNC]
  • PSG8:pregnancy specific beta-1-glycoprotein 8 [Gene - OMIM - HGNC]
  • PSG9:pregnancy specific beta-1-glycoprotein 9 [Gene - OMIM - HGNC]
  • PTGIR:prostaglandin I2 receptor [Gene - OMIM - HGNC]
  • PRKD2:protein kinase D2 [Gene - OMIM - HGNC]
  • PPP1R13L:protein phosphatase 1 regulatory subunit 13 like [Gene - OMIM - HGNC]
  • PPP1R37:protein phosphatase 1 regulatory subunit 37 [Gene - HGNC]
  • PPP5C:protein phosphatase 5 catalytic subunit [Gene - OMIM - HGNC]
  • PPM1N:protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) [Gene - HGNC]
  • RSPH6A:radial spoke head 6 homolog A [Gene - OMIM - HGNC]
  • RTN2:reticulon 2 [Gene - OMIM - HGNC]
  • SRRM5:serine/arginine repetitive matrix 5 [Gene - HGNC]
  • SNRPD2:small nuclear ribonucleoprotein D2 polypeptide [Gene - OMIM - HGNC]
  • STRN4:striatin 4 [Gene - OMIM - HGNC]
  • SYMPK:symplekin scaffold protein [Gene - OMIM - HGNC]
  • TRU-TCA1-1:tRNA-SeC (anticodon TCA) 1-1 [Gene - OMIM - HGNC]
  • TEX101:testis expressed 101 [Gene - OMIM - HGNC]
  • TRAPPC6A:trafficking protein particle complex subunit 6A [Gene - OMIM - HGNC]
  • TOMM40:translocase of outer mitochondrial membrane 40 [Gene - OMIM - HGNC]
  • LOC400706:uncharacterized LOC400706 [Gene]
  • VASP:vasodilator stimulated phosphoprotein [Gene - OMIM - HGNC]
  • ZNF112:zinc finger protein 112 [Gene - OMIM - HGNC]
  • ZNF155:zinc finger protein 155 [Gene - OMIM - HGNC]
  • ZNF180:zinc finger protein 180 [Gene - OMIM - HGNC]
  • ZNF221:zinc finger protein 221 [Gene - HGNC]
  • ZNF222:zinc finger protein 222 [Gene - OMIM - HGNC]
  • ZNF223:zinc finger protein 223 [Gene - HGNC]
  • ZNF224:zinc finger protein 224 [Gene - OMIM - HGNC]
  • ZNF225:zinc finger protein 225 [Gene - HGNC]
  • ZNF226:zinc finger protein 226 [Gene - HGNC]
  • ZNF227:zinc finger protein 227 [Gene - HGNC]
  • ZNF229:zinc finger protein 229 [Gene - HGNC]
  • ZNF230:zinc finger protein 230 [Gene - HGNC]
  • ZNF233:zinc finger protein 233 [Gene - HGNC]
  • ZNF234:zinc finger protein 234 [Gene - OMIM - HGNC]
  • ZNF235:zinc finger protein 235 [Gene - OMIM - HGNC]
  • ZNF283:zinc finger protein 283 [Gene - HGNC]
  • ZNF284:zinc finger protein 284 [Gene - HGNC]
  • ZNF285:zinc finger protein 285 [Gene - HGNC]
  • ZNF296:zinc finger protein 296 [Gene - OMIM - HGNC]
  • ZNF404:zinc finger protein 404 [Gene - HGNC]
  • ZNF428:zinc finger protein 428 [Gene - HGNC]
  • ZNF45:zinc finger protein 45 [Gene - OMIM - HGNC]
  • ZNF575:zinc finger protein 575 [Gene - HGNC]
  • ZNF576:zinc finger protein 576 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19q13.2-13.32
Genomic location:
Chr19: 43013365 - 47241534 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1
HGVS:
NC_000019.9:g.(?_43013365)_(47241534_?)del

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298502GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 20, 2016) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298502.3

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

Last Updated: Apr 23, 2022