U.S. flag

An official website of the United States government

GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2013
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:
RCV000142222.5

Allele description [Variation Report for GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1]

GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1

Genes:
  • LOC130056934:ATAC-STARR-seq lymphoblastoid active region 9308 [Gene]
  • LOC130056936:ATAC-STARR-seq lymphoblastoid active region 9309 [Gene]
  • LOC130056941:ATAC-STARR-seq lymphoblastoid active region 9310 [Gene]
  • LOC130056942:ATAC-STARR-seq lymphoblastoid active region 9311 [Gene]
  • LOC130056935:ATAC-STARR-seq lymphoblastoid silent region 6380 [Gene]
  • LOC130056937:ATAC-STARR-seq lymphoblastoid silent region 6381 [Gene]
  • LOC130056938:ATAC-STARR-seq lymphoblastoid silent region 6382 [Gene]
  • LOC130056939:ATAC-STARR-seq lymphoblastoid silent region 6383 [Gene]
  • LOC130056940:ATAC-STARR-seq lymphoblastoid silent region 6384 [Gene]
  • LOC125078067:Sharpr-MPRA regulatory region 15360 [Gene]
  • LOC125078066:Sharpr-MPRA regulatory region 5629 [Gene]
  • ADAL:adenosine deaminase like [Gene - OMIM - HGNC]
  • CCNDBP1:cyclin D1 binding protein 1 [Gene - OMIM - HGNC]
  • EPB42:erythrocyte membrane protein band 4.2 [Gene - OMIM - HGNC]
  • LCMT2:leucine carboxyl methyltransferase 2 [Gene - OMIM - HGNC]
  • TTBK2:tau tubulin kinase 2 [Gene - OMIM - HGNC]
  • TGM5:transglutaminase 5 [Gene - OMIM - HGNC]
  • TGM7:transglutaminase 7 [Gene - OMIM - HGNC]
  • TMEM62:transmembrane protein 62 [Gene - HGNC]
  • UBR1:ubiquitin protein ligase E3 component n-recognin 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q15.2-15.3
Genomic location:
Preferred name:
GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1
HGVS:
  • NC_000015.10:g.(?_42785627)_(43342260_?)del
  • NC_000015.8:g.(?_40865117)_(41421750_?)del
  • NC_000015.9:g.(?_43077825)_(43634458_?)del
Links:
dbVar: nssv3395216; dbVar: nsv996063
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000183492ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 3, 2013) 		unknownclinical 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, SCV000183492.4

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

Last Updated: May 7, 2024