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GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052682.4

Allele description [Variation Report for GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1]

GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1

Genes:
  • LOC130006143:ATAC-STARR-seq lymphoblastoid active region 5059 [Gene]
  • LOC130006144:ATAC-STARR-seq lymphoblastoid active region 5060 [Gene]
  • LOC130006145:ATAC-STARR-seq lymphoblastoid active region 5061 [Gene]
  • LOC130006147:ATAC-STARR-seq lymphoblastoid active region 5062 [Gene]
  • LOC130006149:ATAC-STARR-seq lymphoblastoid active region 5064 [Gene]
  • LOC130006150:ATAC-STARR-seq lymphoblastoid active region 5065 [Gene]
  • LOC130006151:ATAC-STARR-seq lymphoblastoid active region 5066 [Gene]
  • LOC130006152:ATAC-STARR-seq lymphoblastoid active region 5067 [Gene]
  • LOC130006155:ATAC-STARR-seq lymphoblastoid active region 5068 [Gene]
  • LOC130006157:ATAC-STARR-seq lymphoblastoid active region 5069 [Gene]
  • LOC130006158:ATAC-STARR-seq lymphoblastoid active region 5070 [Gene]
  • LOC130006162:ATAC-STARR-seq lymphoblastoid active region 5072 [Gene]
  • LOC130006167:ATAC-STARR-seq lymphoblastoid active region 5073 [Gene]
  • LOC130006168:ATAC-STARR-seq lymphoblastoid active region 5074 [Gene]
  • LOC130006169:ATAC-STARR-seq lymphoblastoid active region 5075 [Gene]
  • LOC130006171:ATAC-STARR-seq lymphoblastoid active region 5076 [Gene]
  • LOC130006173:ATAC-STARR-seq lymphoblastoid active region 5077 [Gene]
  • LOC130006174:ATAC-STARR-seq lymphoblastoid active region 5078 [Gene]
  • LOC130006175:ATAC-STARR-seq lymphoblastoid active region 5079 [Gene]
  • LOC130006176:ATAC-STARR-seq lymphoblastoid active region 5083 [Gene]
  • LOC130006177:ATAC-STARR-seq lymphoblastoid active region 5084 [Gene]
  • LOC130006180:ATAC-STARR-seq lymphoblastoid active region 5085 [Gene]
  • LOC130006181:ATAC-STARR-seq lymphoblastoid active region 5086 [Gene]
  • LOC130006184:ATAC-STARR-seq lymphoblastoid active region 5087 [Gene]
  • LOC130006186:ATAC-STARR-seq lymphoblastoid active region 5088 [Gene]
  • LOC130006187:ATAC-STARR-seq lymphoblastoid active region 5089 [Gene]
  • LOC130006191:ATAC-STARR-seq lymphoblastoid active region 5090 [Gene]
  • LOC130006193:ATAC-STARR-seq lymphoblastoid active region 5091 [Gene]
  • LOC130006194:ATAC-STARR-seq lymphoblastoid active region 5092 [Gene]
  • LOC130006197:ATAC-STARR-seq lymphoblastoid active region 5093 [Gene]
  • LOC130006198:ATAC-STARR-seq lymphoblastoid active region 5098 [Gene]
  • LOC130006199:ATAC-STARR-seq lymphoblastoid active region 5099 [Gene]
  • LOC130006200:ATAC-STARR-seq lymphoblastoid active region 5101 [Gene]
  • LOC130006201:ATAC-STARR-seq lymphoblastoid active region 5102 [Gene]
  • LOC130006202:ATAC-STARR-seq lymphoblastoid active region 5103 [Gene]
  • LOC130006203:ATAC-STARR-seq lymphoblastoid active region 5104 [Gene]
  • LOC130006204:ATAC-STARR-seq lymphoblastoid active region 5105 [Gene]
  • LOC130006205:ATAC-STARR-seq lymphoblastoid active region 5106 [Gene]
  • LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
  • LOC130006207:ATAC-STARR-seq lymphoblastoid active region 5108 [Gene]
  • LOC130006212:ATAC-STARR-seq lymphoblastoid active region 5109 [Gene]
  • LOC130006214:ATAC-STARR-seq lymphoblastoid active region 5110 [Gene]
  • LOC130006215:ATAC-STARR-seq lymphoblastoid active region 5112 [Gene]
  • LOC130006216:ATAC-STARR-seq lymphoblastoid active region 5113 [Gene]
  • LOC130006217:ATAC-STARR-seq lymphoblastoid active region 5114 [Gene]
  • LOC130006218:ATAC-STARR-seq lymphoblastoid active region 5115 [Gene]
  • LOC130006219:ATAC-STARR-seq lymphoblastoid active region 5116 [Gene]
  • LOC130006223:ATAC-STARR-seq lymphoblastoid active region 5118 [Gene]
  • LOC130006224:ATAC-STARR-seq lymphoblastoid active region 5119 [Gene]
  • LOC130006225:ATAC-STARR-seq lymphoblastoid active region 5120 [Gene]
  • LOC130006226:ATAC-STARR-seq lymphoblastoid active region 5122 [Gene]
  • LOC130006227:ATAC-STARR-seq lymphoblastoid active region 5123 [Gene]
  • LOC130006228:ATAC-STARR-seq lymphoblastoid active region 5124 [Gene]
  • LOC130006229:ATAC-STARR-seq lymphoblastoid active region 5125 [Gene]
  • LOC130006146:ATAC-STARR-seq lymphoblastoid silent region 3607 [Gene]
  • LOC130006148:ATAC-STARR-seq lymphoblastoid silent region 3608 [Gene]
  • LOC130006153:ATAC-STARR-seq lymphoblastoid silent region 3609 [Gene]
  • LOC130006154:ATAC-STARR-seq lymphoblastoid silent region 3610 [Gene]
  • LOC130006156:ATAC-STARR-seq lymphoblastoid silent region 3611 [Gene]
  • LOC130006159:ATAC-STARR-seq lymphoblastoid silent region 3612 [Gene]
  • LOC130006160:ATAC-STARR-seq lymphoblastoid silent region 3613 [Gene]
  • LOC130006161:ATAC-STARR-seq lymphoblastoid silent region 3614 [Gene]
  • LOC130006163:ATAC-STARR-seq lymphoblastoid silent region 3615 [Gene]
  • LOC130006164:ATAC-STARR-seq lymphoblastoid silent region 3616 [Gene]
  • LOC130006165:ATAC-STARR-seq lymphoblastoid silent region 3617 [Gene]
  • LOC130006166:ATAC-STARR-seq lymphoblastoid silent region 3618 [Gene]
  • LOC130006170:ATAC-STARR-seq lymphoblastoid silent region 3619 [Gene]
  • LOC130006172:ATAC-STARR-seq lymphoblastoid silent region 3620 [Gene]
  • LOC130006178:ATAC-STARR-seq lymphoblastoid silent region 3621 [Gene]
  • LOC130006179:ATAC-STARR-seq lymphoblastoid silent region 3622 [Gene]
  • LOC130006182:ATAC-STARR-seq lymphoblastoid silent region 3623 [Gene]
  • LOC130006183:ATAC-STARR-seq lymphoblastoid silent region 3624 [Gene]
  • LOC130006185:ATAC-STARR-seq lymphoblastoid silent region 3625 [Gene]
  • LOC130006188:ATAC-STARR-seq lymphoblastoid silent region 3626 [Gene]
  • LOC130006189:ATAC-STARR-seq lymphoblastoid silent region 3627 [Gene]
  • LOC130006190:ATAC-STARR-seq lymphoblastoid silent region 3628 [Gene]
  • LOC130006192:ATAC-STARR-seq lymphoblastoid silent region 3630 [Gene]
  • LOC130006195:ATAC-STARR-seq lymphoblastoid silent region 3631 [Gene]
  • LOC130006196:ATAC-STARR-seq lymphoblastoid silent region 3632 [Gene]
  • LOC130006208:ATAC-STARR-seq lymphoblastoid silent region 3641 [Gene]
  • LOC130006209:ATAC-STARR-seq lymphoblastoid silent region 3642 [Gene]
  • LOC130006210:ATAC-STARR-seq lymphoblastoid silent region 3643 [Gene]
  • LOC130006211:ATAC-STARR-seq lymphoblastoid silent region 3644 [Gene]
  • LOC130006213:ATAC-STARR-seq lymphoblastoid silent region 3646 [Gene]
  • LOC130006220:ATAC-STARR-seq lymphoblastoid silent region 3647 [Gene]
  • LOC130006221:ATAC-STARR-seq lymphoblastoid silent region 3648 [Gene]
  • LOC130006222:ATAC-STARR-seq lymphoblastoid silent region 3649 [Gene]
  • LOC126861241:BRD4-independent group 4 enhancer GRCh37_chr11:67330455-67331654 [Gene]
  • LOC126861240:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67020970-67022169 [Gene]
  • LOC126861242:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403 [Gene]
  • POLD4:DNA polymerase delta 4, accessory subunit [Gene - OMIM - HGNC]
  • GPR152:G protein-coupled receptor 152 [Gene - HGNC]
  • GRK2:G protein-coupled receptor kinase 2 [Gene - OMIM - HGNC]
  • LOC129390295:MPRA-validated peak1310 silencer [Gene]
  • LOC129390296:MPRA-validated peak1312 silencer [Gene]
  • NDUFV1:NADH:ubiquinone oxidoreductase core subunit V1 [Gene - OMIM - HGNC]
  • NDUFV1-DT:NDUFV1 divergent transcript [Gene - HGNC]
  • LOC126861239:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:66788895-66790094 [Gene]
  • RAD9A:RAD9 checkpoint clamp component A [Gene - OMIM - HGNC]
  • LOC124500677:Sharpr-MPRA regulatory region 11253 [Gene]
  • LOC124500678:Sharpr-MPRA regulatory region 370 [Gene]
  • TBX10:T-box transcription factor 10 [Gene - OMIM - HGNC]
  • TBC1D10C:TBC1 domain family member 10C [Gene - OMIM - HGNC]
  • ALDH3B2:aldehyde dehydrogenase 3 family member B2 [Gene - OMIM - HGNC]
  • ACY3:aminoacylase 3 [Gene - OMIM - HGNC]
  • ANKRD13D:ankyrin repeat domain 13D [Gene - OMIM - HGNC]
  • AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
  • CABP2:calcium binding protein 2 [Gene - OMIM - HGNC]
  • CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]
  • CLCF1:cardiotrophin like cytokine factor 1 [Gene - OMIM - HGNC]
  • CARNS1:carnosine synthase 1 [Gene - OMIM - HGNC]
  • C11orf86:chromosome 11 open reading frame 86 [Gene - HGNC]
  • CORO1B:coronin 1B [Gene - OMIM - HGNC]
  • CDK2AP2:cyclin dependent kinase 2 associated protein 2 [Gene - OMIM - HGNC]
  • GSTP1:glutathione S-transferase pi 1 [Gene - OMIM - HGNC]
  • KDM2A:lysine demethylase 2A [Gene - OMIM - HGNC]
  • MIR3163:microRNA 3163 [Gene - HGNC]
  • MIR6752:microRNA 6752 [Gene - HGNC]
  • MIR6860:microRNA 6860 [Gene - HGNC]
  • NUDT8:nudix hydrolase 8 [Gene - HGNC]
  • PITPNM1:phosphatidylinositol transfer protein membrane associated 1 [Gene - OMIM - HGNC]
  • PPP1CA:protein phosphatase 1 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PTPRCAP:protein tyrosine phosphatase receptor type C associated protein [Gene - OMIM - HGNC]
  • PC:pyruvate carboxylase [Gene - OMIM - HGNC]
  • RHOD:ras homolog family member D [Gene - OMIM - HGNC]
  • RPS6KB2:ribosomal protein S6 kinase B2 [Gene - OMIM - HGNC]
  • SSH3:slingshot protein phosphatase 3 [Gene - OMIM - HGNC]
  • SYT12:synaptotagmin 12 [Gene - OMIM - HGNC]
  • TMEM134:transmembrane protein 134 [Gene - HGNC]
  • LOC100130987:uncharacterized LOC100130987 [Gene]
  • LOC107984341:uncharacterized LOC107984341 [Gene]
Variant type:
copy number loss
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1
HGVS:
  • NC_000011.10:g.(?_66885910)_(67698250_?)del
  • NC_000011.8:g.(?_66409957)_(67222297_?)del
  • NC_000011.9:g.(?_66653381)_(67465721_?)del
Links:
dbVar: nssv577345; dbVar: nsv531397
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
SCV000080036GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080036.4

#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