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GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 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:
RCV001006709.2

Allele description [Variation Report for GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1]

GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1

Genes:
  • ADPGK:ADP dependent glucokinase [Gene - OMIM - HGNC]
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • CD276:CD276 molecule [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • PML:PML nuclear body scaffold [Gene - OMIM - HGNC]
  • REC114:REC114 meiotic recombination protein [Gene - OMIM - HGNC]
  • TBC1D21:TBC1 domain family member 21 [Gene - HGNC]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - OMIM - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • GOLGA6B:golgin A6 family member B [Gene - HGNC]
  • GOLGA6C:golgin A6 family member C [Gene - HGNC]
  • HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • INSYN1:inhibitory synaptic factor 1 [Gene - OMIM - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LOXL1:lysyl oxidase like 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • NEO1:neogenin 1 [Gene - OMIM - HGNC]
  • NPTN:neuroplastin [Gene - OMIM - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - OMIM - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (John Milton Hagen blood group) [Gene - OMIM - HGNC]
  • STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
  • STOML1:stomatin like 1 [Gene - OMIM - HGNC]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q24.1-24.2
Genomic location:
Chr15: 72943184 - 75567198 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1
HGVS:
NC_000015.9:g.(?_72943184)_(75567198_?)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
SCV001166268Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Pathogenic
(Jun 8, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001166268.2

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

Last Updated: Mar 26, 2023