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GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
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:
RCV000767759.1

Allele description [Variation Report for GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)]

GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)

Genes:
  • AKAP13:A-kinase anchoring protein 13 [Gene - OMIM - HGNC]
  • ADAMTSL3:ADAMTS like 3 [Gene - OMIM - HGNC]
  • AGBL1:AGBL carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ARPIN-AP3S2:ARPIN-AP3S2 readthrough [Gene - HGNC]
  • BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
  • CRTC3:CREB regulated transcription coactivator 3 [Gene - OMIM - HGNC]
  • DET1:DET1 partner of COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
  • FANCI:FA complementation group I [Gene - OMIM - HGNC]
  • FES:FES proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • GDPGP1:GDP-D-glucose phosphorylase 1 [Gene - OMIM - HGNC]
  • HDDC3:HD domain containing 3 [Gene - HGNC]
  • IQGAP1:IQ motif containing GTPase activating protein 1 [Gene - OMIM - HGNC]
  • RCCD1:RCC1 domain containing 1 [Gene - OMIM - HGNC]
  • RHCG:Rh family C glycoprotein [Gene - OMIM - HGNC]
  • SEC11A:SEC11 homolog A, signal peptidase complex subunit [Gene - OMIM - HGNC]
  • SH3GL3:SH3 domain containing GRB2 like 3, endophilin A3 [Gene - OMIM - HGNC]
  • TICRR:TOPBP1 interacting checkpoint and replication regulator [Gene - OMIM - HGNC]
  • VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]
  • WDR73:WD repeat domain 73 [Gene - OMIM - HGNC]
  • WDR93:WD repeat domain 93 [Gene - OMIM - HGNC]
  • ABHD2:abhydrolase domain containing 2, acylglycerol lipase [Gene - OMIM - HGNC]
  • ARPIN:actin related protein 2/3 complex inhibitor [Gene - OMIM - HGNC]
  • AP3S2:adaptor related protein complex 3 subunit sigma 2 [Gene - OMIM - HGNC]
  • ACAN:aggrecan [Gene - OMIM - HGNC]
  • ANPEP:alanyl aminopeptidase, membrane [Gene - OMIM - HGNC]
  • ALPK3:alpha kinase 3 [Gene - OMIM - HGNC]
  • AEN:apoptosis enhancing nuclease [Gene - OMIM - HGNC]
  • BNC1:basonuclin 1 [Gene - OMIM - HGNC]
  • CIB1:calcium and integrin binding 1 [Gene - OMIM - HGNC]
  • FURIN:furin, paired basic amino acid cleaving enzyme [Gene - OMIM - HGNC]
  • HAPLN3:hyaluronan and proteoglycan link protein 3 [Gene - HGNC]
  • ISG20:interferon stimulated exonuclease gene 20 [Gene - OMIM - HGNC]
  • IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]
  • KLHL25:kelch like family member 25 [Gene - OMIM - HGNC]
  • KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
  • LINC00928:long intergenic non-protein coding RNA 928 [Gene - HGNC]
  • MAN2A2:mannosidase alpha class 2A member 2 [Gene - OMIM - HGNC]
  • MESP1:mesoderm posterior bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • MIR9-3:microRNA 9-3 [Gene - OMIM - HGNC]
  • MFGE8:milk fat globule EGF and factor V/VIII domain containing [Gene - OMIM - HGNC]
  • MRPL46:mitochondrial ribosomal protein L46 [Gene - OMIM - HGNC]
  • MRPS11:mitochondrial ribosomal protein S11 [Gene - OMIM - HGNC]
  • NGRN:neugrin, neurite outgrowth associated [Gene - OMIM - HGNC]
  • NMB:neuromedin B [Gene - OMIM - HGNC]
  • NTRK3:neurotrophic receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • PLIN1:perilipin 1 [Gene - OMIM - HGNC]
  • PEX11A:peroxisomal biogenesis factor 11 alpha [Gene - OMIM - HGNC]
  • PDE8A:phosphodiesterase 8A [Gene - OMIM - HGNC]
  • PRC1:protein regulator of cytokinesis 1 [Gene - OMIM - HGNC]
  • RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
  • SEMA4B:semaphorin 4B [Gene - OMIM - HGNC]
  • SLC28A1:solute carrier family 28 member 1 [Gene - OMIM - HGNC]
  • SV2B:synaptic vesicle glycoprotein 2B [Gene - OMIM - HGNC]
  • UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]
  • ZSCAN2:zinc finger and SCAN domain containing 2 [Gene - HGNC]
  • ZNF592:zinc finger protein 592 [Gene - OMIM - HGNC]
  • ZNF710:zinc finger protein 710 [Gene - HGNC]
  • ZNF774:zinc finger protein 774 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q25.2-26.1
Genomic location:
Chr15: 83883823 - 92165844 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)
HGVS:
NC_000015.9:g.(?_83883823)_(92165844_?)del
Observations:
1

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
SCV000898381Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)
Pathogenic
(Nov 1, 2018)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Deletions involving this region have been previously reported in patients with development delay, epilepsy and mild dysmorphic features (PMID: 21723464, PMID 22178256, PMID 19486360)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023