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GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 1, 2016
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:
RCV000143668.6

Allele description [Variation Report for GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1]

GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1

Genes:
  • LOC130005759:ATAC-STARR-seq lymphoblastoid active region 4763 [Gene]
  • LOC130005760:ATAC-STARR-seq lymphoblastoid active region 4764 [Gene]
  • LOC130005763:ATAC-STARR-seq lymphoblastoid active region 4765 [Gene]
  • LOC130005764:ATAC-STARR-seq lymphoblastoid active region 4766 [Gene]
  • LOC130005765:ATAC-STARR-seq lymphoblastoid active region 4767 [Gene]
  • LOC130005766:ATAC-STARR-seq lymphoblastoid active region 4768 [Gene]
  • LOC130005767:ATAC-STARR-seq lymphoblastoid active region 4769 [Gene]
  • LOC130005768:ATAC-STARR-seq lymphoblastoid active region 4770 [Gene]
  • LOC130005769:ATAC-STARR-seq lymphoblastoid active region 4771 [Gene]
  • LOC130005770:ATAC-STARR-seq lymphoblastoid active region 4772 [Gene]
  • LOC130005772:ATAC-STARR-seq lymphoblastoid active region 4773 [Gene]
  • LOC130005773:ATAC-STARR-seq lymphoblastoid active region 4774 [Gene]
  • LOC130005774:ATAC-STARR-seq lymphoblastoid active region 4775 [Gene]
  • LOC130005761:ATAC-STARR-seq lymphoblastoid silent region 3370 [Gene]
  • LOC130005762:ATAC-STARR-seq lymphoblastoid silent region 3371 [Gene]
  • LOC130005771:ATAC-STARR-seq lymphoblastoid silent region 3372 [Gene]
  • LOC116216137:CRISPRi-validated cis-regulatory element chr11.2530 [Gene]
  • LOC129390286:MPRA-validated peak1283 silencer [Gene]
  • LOC132089941:Neanderthal introgressed variant-containing enhancer experimental_21611 [Gene]
  • LOC126861219:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:59935886-59937085 [Gene]
  • LOC112081403:Sharpr-MPRA regulatory region 15631 [Gene]
  • LOC121392919:Sharpr-MPRA regulatory region 5454 [Gene]
  • LINC02705:long intergenic non-protein coding RNA 2705 [Gene - HGNC]
  • LINC00301:long intergenic non-protein coding RNA 301 [Gene - HGNC]
  • MS4A12:membrane spanning 4-domains A12 [Gene - OMIM - HGNC]
  • MS4A13:membrane spanning 4-domains A13 [Gene - HGNC]
  • MS4A14:membrane spanning 4-domains A14 [Gene - HGNC]
  • MS4A1:membrane spanning 4-domains A1 [Gene - OMIM - HGNC]
  • MS4A2:membrane spanning 4-domains A2 [Gene - OMIM - HGNC]
  • MS4A3:membrane spanning 4-domains A3 [Gene - OMIM - HGNC]
  • MS4A4A:membrane spanning 4-domains A4A [Gene - OMIM - HGNC]
  • MS4A4E:membrane spanning 4-domains A4E [Gene - OMIM - HGNC]
  • MS4A5:membrane spanning 4-domains A5 [Gene - OMIM - HGNC]
  • MS4A6A:membrane spanning 4-domains A6A [Gene - OMIM - HGNC]
  • MS4A6E:membrane spanning 4-domains A6E [Gene - OMIM - HGNC]
  • MS4A7:membrane spanning 4-domains A7 [Gene - OMIM - HGNC]
  • MIR6503:microRNA 6503 [Gene - HGNC]
  • OOSP1:oocyte secreted protein 1 [Gene - HGNC]
  • OOSP2:oocyte secreted protein 2 [Gene - OMIM - HGNC]
  • OOSP3:oocyte secreted protein family member 3 [Gene - HGNC]
  • OOSP4A:oocyte secreted protein family member 4A [Gene - HGNC]
  • OOSP4B:oocyte secreted protein family member 4B [Gene - HGNC]
  • TCN1:transcobalamin 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q12.1-12.2
Genomic location:
Preferred name:
GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1
HGVS:
  • NC_000011.10:g.(?_59851273)_(60699280_?)del
  • NC_000011.8:g.(?_59375322)_(60223329_?)del
  • NC_000011.9:g.(?_59618746)_(60466753_?)del
Links:
dbVar: nssv3397342; dbVar: nsv995963
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
SCV000183392ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Feb 1, 2016) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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, SCV000183392.4

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

Last Updated: May 7, 2024