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GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000137134.5

Allele description [Variation Report for GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3]

GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3

Genes:
  • LOC129929306:ATAC-STARR-seq lymphoblastoid active region 111 [Gene]
  • LOC129929307:ATAC-STARR-seq lymphoblastoid active region 112 [Gene]
  • LOC129929308:ATAC-STARR-seq lymphoblastoid active region 113 [Gene]
  • LOC129929309:ATAC-STARR-seq lymphoblastoid active region 114 [Gene]
  • LOC129929312:ATAC-STARR-seq lymphoblastoid active region 115 [Gene]
  • LOC129929313:ATAC-STARR-seq lymphoblastoid active region 116 [Gene]
  • LOC129929314:ATAC-STARR-seq lymphoblastoid active region 117 [Gene]
  • LOC129929315:ATAC-STARR-seq lymphoblastoid active region 118 [Gene]
  • LOC129929316:ATAC-STARR-seq lymphoblastoid active region 119 [Gene]
  • LOC129929319:ATAC-STARR-seq lymphoblastoid active region 120 [Gene]
  • LOC129929328:ATAC-STARR-seq lymphoblastoid active region 125 [Gene]
  • LOC129929329:ATAC-STARR-seq lymphoblastoid active region 126 [Gene]
  • LOC129929330:ATAC-STARR-seq lymphoblastoid active region 127 [Gene]
  • LOC129929331:ATAC-STARR-seq lymphoblastoid active region 128 [Gene]
  • LOC129929333:ATAC-STARR-seq lymphoblastoid active region 129 [Gene]
  • LOC129929337:ATAC-STARR-seq lymphoblastoid active region 130 [Gene]
  • LOC129929338:ATAC-STARR-seq lymphoblastoid active region 131 [Gene]
  • LOC129929341:ATAC-STARR-seq lymphoblastoid active region 132 [Gene]
  • LOC129929342:ATAC-STARR-seq lymphoblastoid active region 133 [Gene]
  • LOC129929344:ATAC-STARR-seq lymphoblastoid active region 134 [Gene]
  • LOC129929345:ATAC-STARR-seq lymphoblastoid active region 135 [Gene]
  • LOC129929346:ATAC-STARR-seq lymphoblastoid active region 136 [Gene]
  • LOC129929350:ATAC-STARR-seq lymphoblastoid active region 137 [Gene]
  • LOC129929351:ATAC-STARR-seq lymphoblastoid active region 138 [Gene]
  • LOC129929352:ATAC-STARR-seq lymphoblastoid active region 139 [Gene]
  • LOC129929354:ATAC-STARR-seq lymphoblastoid active region 140 [Gene]
  • LOC129929358:ATAC-STARR-seq lymphoblastoid active region 141 [Gene]
  • LOC129929303:ATAC-STARR-seq lymphoblastoid silent region 201 [Gene]
  • LOC129929304:ATAC-STARR-seq lymphoblastoid silent region 203 [Gene]
  • LOC129929305:ATAC-STARR-seq lymphoblastoid silent region 207 [Gene]
  • LOC129929310:ATAC-STARR-seq lymphoblastoid silent region 208 [Gene]
  • LOC129929311:ATAC-STARR-seq lymphoblastoid silent region 209 [Gene]
  • LOC129929317:ATAC-STARR-seq lymphoblastoid silent region 210 [Gene]
  • LOC129929318:ATAC-STARR-seq lymphoblastoid silent region 211 [Gene]
  • LOC129929320:ATAC-STARR-seq lymphoblastoid silent region 212 [Gene]
  • LOC129929321:ATAC-STARR-seq lymphoblastoid silent region 214 [Gene]
  • LOC129929322:ATAC-STARR-seq lymphoblastoid silent region 215 [Gene]
  • LOC129929323:ATAC-STARR-seq lymphoblastoid silent region 216 [Gene]
  • LOC129929324:ATAC-STARR-seq lymphoblastoid silent region 217 [Gene]
  • LOC129929325:ATAC-STARR-seq lymphoblastoid silent region 218 [Gene]
  • LOC129929326:ATAC-STARR-seq lymphoblastoid silent region 219 [Gene]
  • LOC129929327:ATAC-STARR-seq lymphoblastoid silent region 220 [Gene]
  • LOC129929332:ATAC-STARR-seq lymphoblastoid silent region 222 [Gene]
  • LOC129929334:ATAC-STARR-seq lymphoblastoid silent region 223 [Gene]
  • LOC129929335:ATAC-STARR-seq lymphoblastoid silent region 224 [Gene]
  • LOC129929336:ATAC-STARR-seq lymphoblastoid silent region 225 [Gene]
  • LOC129929339:ATAC-STARR-seq lymphoblastoid silent region 226 [Gene]
  • LOC129929340:ATAC-STARR-seq lymphoblastoid silent region 227 [Gene]
  • LOC129929343:ATAC-STARR-seq lymphoblastoid silent region 228 [Gene]
  • LOC129929347:ATAC-STARR-seq lymphoblastoid silent region 229 [Gene]
  • LOC129929348:ATAC-STARR-seq lymphoblastoid silent region 231 [Gene]
  • LOC129929349:ATAC-STARR-seq lymphoblastoid silent region 232 [Gene]
  • LOC129929353:ATAC-STARR-seq lymphoblastoid silent region 236 [Gene]
  • LOC129929355:ATAC-STARR-seq lymphoblastoid silent region 237 [Gene]
  • LOC129929356:ATAC-STARR-seq lymphoblastoid silent region 238 [Gene]
  • LOC129929357:ATAC-STARR-seq lymphoblastoid silent region 239 [Gene]
  • LOC126805613:BRD4-independent group 4 enhancer GRCh37_chr1:10002582-10003781 [Gene]
  • LOC126805610:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9377645-9378844 [Gene]
  • LOC126805611:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9657808-9659007 [Gene]
  • ENO1-AS1:ENO1 antisense RNA 1 [Gene - HGNC]
  • GPR157:G protein-coupled receptor 157 [Gene - HGNC]
  • LOC126805609:MED14-independent group 3 enhancer GRCh37_chr1:8933339-8934538 [Gene]
  • LOC126805612:MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113 [Gene]
  • MIR34AHG:MIR34A host gene [Gene - HGNC]
  • LOC129388438:MPRA-validated peak52 silencer [Gene]
  • LOC129388439:MPRA-validated peak53 silencer [Gene]
  • LOC129388440:MPRA-validated peak54 silencer [Gene]
  • LOC129388441:MPRA-validated peak56 silencer [Gene]
  • LOC129388442:MPRA-validated peak57 silencer [Gene]
  • LOC129388443:MPRA-validated peak58 silencer [Gene]
  • LOC129388444:MPRA-validated peak62 silencer [Gene]
  • LOC129388445:MPRA-validated peak63 silencer [Gene]
  • LOC132088746:Neanderthal introgressed variant-containing enhancer experimental_9566 [Gene]
  • LOC132205952:Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584 [Gene]
  • PIK3CD-AS1:PIK3CD antisense RNA 1 [Gene - HGNC]
  • PIK3CD-AS2:PIK3CD antisense RNA 2 [Gene - HGNC]
  • LOC121967071:Sharpr-MPRA regulatory region 14190 [Gene]
  • LOC121677386:Sharpr-MPRA regulatory region 1652 [Gene]
  • LOC121967069:Sharpr-MPRA regulatory region 3390 [Gene]
  • LOC121967068:Sharpr-MPRA regulatory region 4622 [Gene]
  • LOC120883621:Sharpr-MPRA regulatory region 7425 [Gene]
  • LOC112590823:Sharpr-MPRA regulatory region 7894 [Gene]
  • LOC121967070:Sharpr-MPRA regulatory region 8161 [Gene]
  • LOC120883620:Sharpr-MPRA regulatory region 9811 [Gene]
  • LOC120883622:Sharpr-MPRA regulatory region 9854 [Gene]
  • LOC110121160:VISTA enhancer hs1615 [Gene]
  • RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]
  • CLSTN1:calsyntenin 1 [Gene - OMIM - HGNC]
  • CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]
  • CTNNBIP1:catenin beta interacting protein 1 [Gene - OMIM - HGNC]
  • ENO1:enolase 1 [Gene - OMIM - HGNC]
  • LOC112590825:hESC enhancers GRCh37_chr1:9653469-9654066 and GRCh37_chr1:9654067-9654663 [Gene]
  • H6PD:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Gene - OMIM - HGNC]
  • LZIC:leucine zipper and CTNNBIP1 domain containing [Gene - OMIM - HGNC]
  • LINC02606:long intergenic non-protein coding RNA 2606 [Gene - HGNC]
  • LNCTAM34A:long non coding transcriptional activator of miR34a [Gene - HGNC]
  • MIR34A:microRNA 34a [Gene - OMIM - HGNC]
  • MIR5697:microRNA 5697 [Gene - HGNC]
  • MIR6728:microRNA 6728 [Gene - HGNC]
  • NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]
  • LOC106783575:nonconserved acetylation island sequence 67 enhancer [Gene]
  • PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]
  • RBP7:retinol binding protein 7 [Gene - OMIM - HGNC]
  • SLC2A5:solute carrier family 2 member 5 [Gene - OMIM - HGNC]
  • SLC2A7:solute carrier family 2 member 7 [Gene - OMIM - HGNC]
  • SLC25A33:solute carrier family 25 member 33 [Gene - OMIM - HGNC]
  • SPSB1:splA/ryanodine receptor domain and SOCS box containing 1 [Gene - OMIM - HGNC]
  • TMEM201:transmembrane protein 201 [Gene - HGNC]
  • UBE4B:ubiquitination factor E4B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p36.23-36.22
Genomic location:
Preferred name:
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3
HGVS:
  • NC_000001.11:g.(?_8804244)_(10102950_?)dup
  • NC_000001.10:g.(?_8864303)_(10163008_?)dup
  • NC_000001.9:g.(?_8786890)_(10085595_?)dup
Links:
dbVar: nssv583161; dbVar: nsv534559
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
SCV000177338ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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, SCV000177338.4

#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