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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2014
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:
RCV000510609.2

Allele description

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
Links:
dbVar: nssv14082370; dbVar: nsv3109792
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000586326ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 15, 2014) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000586326.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Mar 26, 2023