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GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2012
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:
RCV000139788.5

Allele description [Variation Report for GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1]

GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1

Genes:
  • LOC130005670:ATAC-STARR-seq lymphoblastoid active region 4693 [Gene]
  • LOC130005671:ATAC-STARR-seq lymphoblastoid active region 4694 [Gene]
  • LOC130005672:ATAC-STARR-seq lymphoblastoid active region 4695 [Gene]
  • LOC130005674:ATAC-STARR-seq lymphoblastoid active region 4696 [Gene]
  • LOC130005675:ATAC-STARR-seq lymphoblastoid active region 4697 [Gene]
  • LOC130005677:ATAC-STARR-seq lymphoblastoid active region 4699 [Gene]
  • LOC130005673:ATAC-STARR-seq lymphoblastoid silent region 3325 [Gene]
  • LOC130005676:ATAC-STARR-seq lymphoblastoid silent region 3327 [Gene]
  • LOC130005678:ATAC-STARR-seq lymphoblastoid silent region 3329 [Gene]
  • MADD-AS1:MADD antisense RNA 1 [Gene - HGNC]
  • MADD:MAP kinase activating death domain [Gene - OMIM - HGNC]
  • LOC126861205:MED14-independent group 3 enhancer GRCh37_chr11:47236089-47237288 [Gene]
  • SLC39A13-AS1:SLC39A13 antisense RNA 1 [Gene - HGNC]
  • LOC121392911:Sharpr-MPRA regulatory region 2100 [Gene]
  • LOC121392912:Sharpr-MPRA regulatory region 9889 [Gene]
  • SPI1:Spi-1 proto-oncogene [Gene - OMIM - HGNC]
  • ACP2:acid phosphatase 2, lysosomal [Gene - OMIM - HGNC]
  • DDB2:damage specific DNA binding protein 2 [Gene - OMIM - HGNC]
  • MIR4487:microRNA 4487 [Gene - HGNC]
  • MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
  • NR1H3:nuclear receptor subfamily 1 group H member 3 [Gene - OMIM - HGNC]
  • PSMC3:proteasome 26S subunit, ATPase 3 [Gene - OMIM - HGNC]
  • SLC39A13:solute carrier family 39 member 13 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1
HGVS:
  • NC_000011.10:g.(?_47210659)_(47427331_?)del
  • NC_000011.8:g.(?_47188786)_(47405458_?)del
  • NC_000011.9:g.(?_47232210)_(47448882_?)del
Links:
dbVar: nssv1604669; dbVar: nsv917316
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
SCV000180388ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 16, 2012) 		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, SCV000180388.4

#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