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GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 18, 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:
RCV000142138.7

Allele description

GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1

Genes:
  • DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
  • LOC130006239:ATAC-STARR-seq lymphoblastoid active region 5130 [Gene]
  • LOC130006240:ATAC-STARR-seq lymphoblastoid active region 5131 [Gene]
  • LOC130006241:ATAC-STARR-seq lymphoblastoid active region 5132 [Gene]
  • LOC130006246:ATAC-STARR-seq lymphoblastoid active region 5133 [Gene]
  • LOC130006247:ATAC-STARR-seq lymphoblastoid active region 5134 [Gene]
  • LOC130006249:ATAC-STARR-seq lymphoblastoid active region 5135 [Gene]
  • LOC130006250:ATAC-STARR-seq lymphoblastoid active region 5136 [Gene]
  • LOC130006251:ATAC-STARR-seq lymphoblastoid active region 5137 [Gene]
  • LOC130006252:ATAC-STARR-seq lymphoblastoid active region 5138 [Gene]
  • LOC130006253:ATAC-STARR-seq lymphoblastoid active region 5139 [Gene]
  • LOC130006256:ATAC-STARR-seq lymphoblastoid active region 5140 [Gene]
  • LOC130006261:ATAC-STARR-seq lymphoblastoid active region 5141 [Gene]
  • LOC130006263:ATAC-STARR-seq lymphoblastoid active region 5142 [Gene]
  • LOC130006269:ATAC-STARR-seq lymphoblastoid active region 5143 [Gene]
  • LOC130006270:ATAC-STARR-seq lymphoblastoid active region 5144 [Gene]
  • LOC130006272:ATAC-STARR-seq lymphoblastoid active region 5147 [Gene]
  • LOC130006273:ATAC-STARR-seq lymphoblastoid active region 5148 [Gene]
  • LOC130006275:ATAC-STARR-seq lymphoblastoid active region 5149 [Gene]
  • LOC130006279:ATAC-STARR-seq lymphoblastoid active region 5150 [Gene]
  • LOC130006280:ATAC-STARR-seq lymphoblastoid active region 5151 [Gene]
  • LOC130006281:ATAC-STARR-seq lymphoblastoid active region 5152 [Gene]
  • LOC130006283:ATAC-STARR-seq lymphoblastoid active region 5153 [Gene]
  • LOC130006286:ATAC-STARR-seq lymphoblastoid active region 5154 [Gene]
  • LOC130006287:ATAC-STARR-seq lymphoblastoid active region 5158 [Gene]
  • LOC130006288:ATAC-STARR-seq lymphoblastoid active region 5159 [Gene]
  • LOC130006294:ATAC-STARR-seq lymphoblastoid active region 5161 [Gene]
  • LOC130006298:ATAC-STARR-seq lymphoblastoid active region 5162 [Gene]
  • LOC130006303:ATAC-STARR-seq lymphoblastoid active region 5163 [Gene]
  • LOC130006304:ATAC-STARR-seq lymphoblastoid active region 5164 [Gene]
  • LOC130006305:ATAC-STARR-seq lymphoblastoid active region 5165 [Gene]
  • LOC130006308:ATAC-STARR-seq lymphoblastoid active region 5166 [Gene]
  • LOC130006309:ATAC-STARR-seq lymphoblastoid active region 5167 [Gene]
  • LOC130006311:ATAC-STARR-seq lymphoblastoid active region 5168 [Gene]
  • LOC130006312:ATAC-STARR-seq lymphoblastoid active region 5170 [Gene]
  • LOC130006237:ATAC-STARR-seq lymphoblastoid silent region 3656 [Gene]
  • LOC130006238:ATAC-STARR-seq lymphoblastoid silent region 3657 [Gene]
  • LOC130006242:ATAC-STARR-seq lymphoblastoid silent region 3658 [Gene]
  • LOC130006243:ATAC-STARR-seq lymphoblastoid silent region 3661 [Gene]
  • LOC130006244:ATAC-STARR-seq lymphoblastoid silent region 3662 [Gene]
  • LOC130006245:ATAC-STARR-seq lymphoblastoid silent region 3666 [Gene]
  • LOC130006248:ATAC-STARR-seq lymphoblastoid silent region 3667 [Gene]
  • LOC130006254:ATAC-STARR-seq lymphoblastoid silent region 3671 [Gene]
  • LOC130006255:ATAC-STARR-seq lymphoblastoid silent region 3673 [Gene]
  • LOC130006257:ATAC-STARR-seq lymphoblastoid silent region 3674 [Gene]
  • LOC130006258:ATAC-STARR-seq lymphoblastoid silent region 3675 [Gene]
  • LOC130006259:ATAC-STARR-seq lymphoblastoid silent region 3676 [Gene]
  • LOC130006260:ATAC-STARR-seq lymphoblastoid silent region 3678 [Gene]
  • LOC130006262:ATAC-STARR-seq lymphoblastoid silent region 3679 [Gene]
  • LOC130006264:ATAC-STARR-seq lymphoblastoid silent region 3680 [Gene]
  • LOC130006265:ATAC-STARR-seq lymphoblastoid silent region 3681 [Gene]
  • LOC130006266:ATAC-STARR-seq lymphoblastoid silent region 3682 [Gene]
  • LOC130006267:ATAC-STARR-seq lymphoblastoid silent region 3683 [Gene]
  • LOC130006268:ATAC-STARR-seq lymphoblastoid silent region 3684 [Gene]
  • LOC130006271:ATAC-STARR-seq lymphoblastoid silent region 3685 [Gene]
  • LOC130006274:ATAC-STARR-seq lymphoblastoid silent region 3686 [Gene]
  • LOC130006276:ATAC-STARR-seq lymphoblastoid silent region 3687 [Gene]
  • LOC130006277:ATAC-STARR-seq lymphoblastoid silent region 3688 [Gene]
  • LOC130006278:ATAC-STARR-seq lymphoblastoid silent region 3689 [Gene]
  • LOC130006282:ATAC-STARR-seq lymphoblastoid silent region 3690 [Gene]
  • LOC130006284:ATAC-STARR-seq lymphoblastoid silent region 3691 [Gene]
  • LOC130006285:ATAC-STARR-seq lymphoblastoid silent region 3692 [Gene]
  • LOC130006289:ATAC-STARR-seq lymphoblastoid silent region 3693 [Gene]
  • LOC130006290:ATAC-STARR-seq lymphoblastoid silent region 3694 [Gene]
  • LOC130006291:ATAC-STARR-seq lymphoblastoid silent region 3695 [Gene]
  • LOC130006292:ATAC-STARR-seq lymphoblastoid silent region 3696 [Gene]
  • LOC130006293:ATAC-STARR-seq lymphoblastoid silent region 3697 [Gene]
  • LOC130006295:ATAC-STARR-seq lymphoblastoid silent region 3699 [Gene]
  • LOC130006296:ATAC-STARR-seq lymphoblastoid silent region 3700 [Gene]
  • LOC130006297:ATAC-STARR-seq lymphoblastoid silent region 3701 [Gene]
  • LOC130006299:ATAC-STARR-seq lymphoblastoid silent region 3702 [Gene]
  • LOC130006300:ATAC-STARR-seq lymphoblastoid silent region 3703 [Gene]
  • LOC130006301:ATAC-STARR-seq lymphoblastoid silent region 3704 [Gene]
  • LOC130006302:ATAC-STARR-seq lymphoblastoid silent region 3705 [Gene]
  • LOC130006306:ATAC-STARR-seq lymphoblastoid silent region 3706 [Gene]
  • LOC130006307:ATAC-STARR-seq lymphoblastoid silent region 3707 [Gene]
  • LOC130006310:ATAC-STARR-seq lymphoblastoid silent region 3709 [Gene]
  • LOC126861244:BRD4-independent group 4 enhancer GRCh37_chr11:68549035-68550234 [Gene]
  • LOC126861252:BRD4-independent group 4 enhancer GRCh37_chr11:69980445-69981644 [Gene]
  • LOC126861254:BRD4-independent group 4 enhancer GRCh37_chr11:70399135-70400334 [Gene]
  • LOC126861245:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678 [Gene]
  • LOC126861246:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68775901-68777100 [Gene]
  • LOC126861249:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:69407786-69408985 [Gene]
  • LOC126861253:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:70265651-70266850 [Gene]
  • CHKA-DT:CHKA divergent transcript [Gene - HGNC]
  • LOC116216149:CRISPRi-validated cis-regulatory element chr11.3768 [Gene]
  • LOC116216150:CRISPRi-validated cis-regulatory element chr11.3769 [Gene]
  • CTTN-DT:CTTN divergent transcript [Gene - HGNC]
  • DHCR7-DT:DHCR7 divergent transcript [Gene - HGNC]
  • LOC109245078:FGF19 5' regulatory region [Gene]
  • LOC109245079:FGF19 upstream enhancer [Gene]
  • LOC109115964:FGF3 5' regulatory region [Gene]
  • LOC109117331:FGF4 3' enhancer [Gene]
  • LOC109117330:FGF4 promoter region [Gene]
  • FADD:Fas associated via death domain [Gene - OMIM - HGNC]
  • LOC111501772:GATA motif-containing MPRA enhancer 291 [Gene]
  • LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]
  • LTO1:LTO1 maturation factor of ABCE1 [Gene - OMIM - HGNC]
  • MRGPRD:MAS related GPR family member D [Gene - OMIM - HGNC]
  • MRGPRF:MAS related GPR family member F [Gene - OMIM - HGNC]
  • LOC126861250:MED14-independent group 3 enhancer GRCh37_chr11:69503328-69504527 [Gene]
  • LOC129390297:MPRA-validated peak1319 silencer [Gene]
  • LOC129390298:MPRA-validated peak1324 silencer [Gene]
  • LOC129390299:MPRA-validated peak1326 silencer [Gene]
  • LOC129390300:MPRA-validated peak1327 silencer [Gene]
  • LOC129390301:MPRA-validated peak1329 silencer [Gene]
  • LOC129390302:MPRA-validated peak1330 silencer [Gene]
  • MRGPRF-AS1:MRGPRF antisense RNA 1 [Gene - HGNC]
  • NADSYN1:NAD synthetase 1 [Gene - OMIM - HGNC]
  • NDUFS8:NADH:ubiquinone oxidoreductase core subunit S8 [Gene - OMIM - HGNC]
  • LOC111413018:NFE2L2 motif-containing MPRA enhancer 149 [Gene]
  • LOC132089942:Neanderthal introgressed variant-containing enhancer experimental_21658 [Gene]
  • LOC126861243:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:68034746-68035945 [Gene]
  • LOC126861247:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:68847233-68848432 [Gene]
  • LOC126861248:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:69064594-69065793 [Gene]
  • LOC126861251:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:69794428-69795627 [Gene]
  • LOC126861255:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:70634290-70635489 [Gene]
  • LOC126861256:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:71009949-71011148 [Gene]
  • PPFIA1:PTPRF interacting protein alpha 1 [Gene - OMIM - HGNC]
  • SHANK2:SH3 and multiple ankyrin repeat domains 2 [Gene - OMIM - HGNC]
  • SHANK2-AS1:SHANK2 antisense RNA 1 [Gene - HGNC]
  • SHANK2-AS3:SHANK2 antisense RNA 3 [Gene - HGNC]
  • LOC121832797:Sharpr-MPRA regulatory region 10534 [Gene]
  • LOC112136078:Sharpr-MPRA regulatory region 1080 [Gene]
  • LOC112081415:Sharpr-MPRA regulatory region 1260 [Gene]
  • LOC124500682:Sharpr-MPRA regulatory region 13422 [Gene]
  • LOC121392926:Sharpr-MPRA regulatory region 1776 [Gene]
  • LOC124500683:Sharpr-MPRA regulatory region 1844 [Gene]
  • LOC124500679:Sharpr-MPRA regulatory region 2086 [Gene]
  • LOC113939929:Sharpr-MPRA regulatory region 3810 [Gene]
  • LOC124500680:Sharpr-MPRA regulatory region 4947 [Gene]
  • LOC121832798:Sharpr-MPRA regulatory region 7507 [Gene]
  • LOC121832796:Sharpr-MPRA regulatory region 8382 [Gene]
  • LOC124500681:Sharpr-MPRA regulatory region 8818 [Gene]
  • LOC121392925:Sharpr-MPRA regulatory region 8845 [Gene]
  • LOC112081416:Sharpr-MPRA regulatory region 9006 [Gene]
  • TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]
  • LOC110121462:VISTA enhancer hs1920 [Gene]
  • LOC110121479:VISTA enhancer hs2073 [Gene]
  • ACTE1P:actin epsilon 1, pseudogene [Gene - HGNC]
  • ANO1:anoctamin 1 [Gene - OMIM - HGNC]
  • CPT1A:carnitine palmitoyltransferase 1A [Gene - OMIM - HGNC]
  • CHKA:choline kinase alpha [Gene - OMIM - HGNC]
  • C11orf24:chromosome 11 open reading frame 24 [Gene - OMIM - HGNC]
  • CTTN:cortactin [Gene - OMIM - HGNC]
  • CCND1:cyclin D1 [Gene - OMIM - HGNC]
  • FGF19:fibroblast growth factor 19 [Gene - OMIM - HGNC]
  • FGF3:fibroblast growth factor 3 [Gene - OMIM - HGNC]
  • FGF4:fibroblast growth factor 4 [Gene - OMIM - HGNC]
  • GAL:galanin and GMAP prepropeptide [Gene - OMIM - HGNC]
  • IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
  • KRTAP5-10:keratin associated protein 5-10 [Gene - HGNC]
  • KRTAP5-11:keratin associated protein 5-11 [Gene - HGNC]
  • KRTAP5-7:keratin associated protein 5-7 [Gene - HGNC]
  • KRTAP5-8:keratin associated protein 5-8 [Gene - HGNC]
  • KRTAP5-9:keratin associated protein 5-9 [Gene - OMIM - HGNC]
  • LINC01488:long intergenic non-protein coding RNA 1488 [Gene - OMIM - HGNC]
  • LINC02584:long intergenic non-protein coding RNA 2584 [Gene - HGNC]
  • LINC02747:long intergenic non-protein coding RNA 2747 [Gene - OMIM - HGNC]
  • LINC02753:long intergenic non-protein coding RNA 2753 [Gene - HGNC]
  • LINC02952:long intergenic non-protein coding RNA 2952 [Gene - HGNC]
  • LINC02953:long intergenic non-protein coding RNA 2953 [Gene - HGNC]
  • KMT5B:lysine methyltransferase 5B [Gene - OMIM - HGNC]
  • LOC128772347:melanoma risk locus-associated MPRA allelic enhancer 11:69350505 [Gene]
  • LOC128772348:melanoma risk locus-associated MPRA allelic enhancer 11:69354185 [Gene]
  • LOC128772349:melanoma risk locus-associated MPRA allelic enhancer 11:69367118 [Gene]
  • LOC128772350:melanoma risk locus-associated MPRA allelic enhancer 11:69370584 [Gene]
  • LOC128772351:melanoma risk locus-associated MPRA allelic enhancer 11:69371642 [Gene]
  • LOC128772352:melanoma risk locus-associated MPRA allelic enhancer 11:69375393 [Gene]
  • LOC128772353:melanoma risk locus-associated MPRA allelic enhancer 11:69388143 [Gene]
  • MIR3164:microRNA 3164 [Gene - HGNC]
  • MIR3664:microRNA 3664 [Gene - HGNC]
  • MIR4691:microRNA 4691 [Gene - HGNC]
  • MIR548K:microRNA 548k [Gene - HGNC]
  • MIR6753:microRNA 6753 [Gene - HGNC]
  • MIR6754:microRNA 6754 [Gene - HGNC]
  • MIR7113:microRNA 7113 [Gene - HGNC]
  • MRPL21:mitochondrial ribosomal protein L21 [Gene - OMIM - HGNC]
  • MYEOV:myeloma overexpressed [Gene - OMIM - HGNC]
  • PPP6R3:protein phosphatase 6 regulatory subunit 3 [Gene - OMIM - HGNC]
  • SMIM38:small integral membrane protein 38 [Gene - HGNC]
  • TESMIN:testis expressed metallothionein like protein [Gene - OMIM - HGNC]
  • TPCN2:two pore segment channel 2 [Gene - OMIM - HGNC]
  • LOC105369367:uncharacterized LOC105369367 [Gene]
  • LOC105369373:uncharacterized LOC105369373 [Gene]
  • LOC338694:uncharacterized LOC338694 [Gene]
Variant type:
copy number loss
Cytogenetic location:
11q13.2-13.4
Genomic location:
Preferred name:
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1
HGVS:
  • NC_000011.10:g.(?_68031693)_(71593495_?)del
  • NC_000011.8:g.(?_67555736)_(70982189_?)del
  • NC_000011.9:g.(?_67799160)_(71304541_?)del
Links:
dbVar: nssv3395175; dbVar: nsv995935
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
SCV000183364ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jul 18, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000183364.4

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

Last Updated: Oct 14, 2023