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GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000051831.4

Allele description [Variation Report for GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3]

GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3

Genes:
  • HMGCS2:3-hydroxy-3-methylglutaryl-CoA synthase 2 [Gene - OMIM - HGNC]
  • ADAM30:ADAM metallopeptidase domain 30 [Gene - OMIM - HGNC]
  • LOC129931255:ATAC-STARR-seq lymphoblastoid active region 1556 [Gene]
  • LOC129931256:ATAC-STARR-seq lymphoblastoid active region 1557 [Gene]
  • LOC129931259:ATAC-STARR-seq lymphoblastoid active region 1558 [Gene]
  • LOC129931262:ATAC-STARR-seq lymphoblastoid active region 1559 [Gene]
  • LOC129931263:ATAC-STARR-seq lymphoblastoid active region 1560 [Gene]
  • LOC129931264:ATAC-STARR-seq lymphoblastoid active region 1561 [Gene]
  • LOC129931265:ATAC-STARR-seq lymphoblastoid active region 1562 [Gene]
  • LOC129931266:ATAC-STARR-seq lymphoblastoid active region 1564 [Gene]
  • LOC129931267:ATAC-STARR-seq lymphoblastoid active region 1565 [Gene]
  • LOC129931268:ATAC-STARR-seq lymphoblastoid active region 1566 [Gene]
  • LOC129931269:ATAC-STARR-seq lymphoblastoid active region 1568 [Gene]
  • LOC129931270:ATAC-STARR-seq lymphoblastoid active region 1569 [Gene]
  • LOC129931271:ATAC-STARR-seq lymphoblastoid active region 1570 [Gene]
  • LOC129931272:ATAC-STARR-seq lymphoblastoid active region 1571 [Gene]
  • LOC129931275:ATAC-STARR-seq lymphoblastoid active region 1572 [Gene]
  • LOC129931278:ATAC-STARR-seq lymphoblastoid active region 1573 [Gene]
  • LOC129931279:ATAC-STARR-seq lymphoblastoid active region 1574 [Gene]
  • LOC129931280:ATAC-STARR-seq lymphoblastoid active region 1575 [Gene]
  • LOC129931281:ATAC-STARR-seq lymphoblastoid active region 1578 [Gene]
  • LOC129931283:ATAC-STARR-seq lymphoblastoid active region 1579 [Gene]
  • LOC129931285:ATAC-STARR-seq lymphoblastoid active region 1580 [Gene]
  • LOC129931288:ATAC-STARR-seq lymphoblastoid active region 1581 [Gene]
  • LOC129931291:ATAC-STARR-seq lymphoblastoid active region 1582 [Gene]
  • LOC129931293:ATAC-STARR-seq lymphoblastoid active region 1583 [Gene]
  • LOC129931294:ATAC-STARR-seq lymphoblastoid active region 1584 [Gene]
  • LOC129931295:ATAC-STARR-seq lymphoblastoid active region 1585 [Gene]
  • LOC129931296:ATAC-STARR-seq lymphoblastoid active region 1586 [Gene]
  • LOC129931297:ATAC-STARR-seq lymphoblastoid active region 1587 [Gene]
  • LOC129931298:ATAC-STARR-seq lymphoblastoid active region 1588 [Gene]
  • LOC129931299:ATAC-STARR-seq lymphoblastoid active region 1590 [Gene]
  • LOC129931300:ATAC-STARR-seq lymphoblastoid active region 1591 [Gene]
  • LOC129931301:ATAC-STARR-seq lymphoblastoid active region 1593 [Gene]
  • LOC129931306:ATAC-STARR-seq lymphoblastoid active region 1595 [Gene]
  • LOC129931307:ATAC-STARR-seq lymphoblastoid active region 1598 [Gene]
  • LOC129931254:ATAC-STARR-seq lymphoblastoid silent region 1226 [Gene]
  • LOC129931257:ATAC-STARR-seq lymphoblastoid silent region 1227 [Gene]
  • LOC129931258:ATAC-STARR-seq lymphoblastoid silent region 1228 [Gene]
  • LOC129931260:ATAC-STARR-seq lymphoblastoid silent region 1229 [Gene]
  • LOC129931261:ATAC-STARR-seq lymphoblastoid silent region 1230 [Gene]
  • LOC129931273:ATAC-STARR-seq lymphoblastoid silent region 1232 [Gene]
  • LOC129931274:ATAC-STARR-seq lymphoblastoid silent region 1233 [Gene]
  • LOC129931276:ATAC-STARR-seq lymphoblastoid silent region 1234 [Gene]
  • LOC129931277:ATAC-STARR-seq lymphoblastoid silent region 1235 [Gene]
  • LOC129931282:ATAC-STARR-seq lymphoblastoid silent region 1236 [Gene]
  • LOC129931284:ATAC-STARR-seq lymphoblastoid silent region 1237 [Gene]
  • LOC129931286:ATAC-STARR-seq lymphoblastoid silent region 1238 [Gene]
  • LOC129931287:ATAC-STARR-seq lymphoblastoid silent region 1239 [Gene]
  • LOC129931289:ATAC-STARR-seq lymphoblastoid silent region 1240 [Gene]
  • LOC129931290:ATAC-STARR-seq lymphoblastoid silent region 1241 [Gene]
  • LOC129931292:ATAC-STARR-seq lymphoblastoid silent region 1243 [Gene]
  • LOC129931302:ATAC-STARR-seq lymphoblastoid silent region 1244 [Gene]
  • LOC129931303:ATAC-STARR-seq lymphoblastoid silent region 1245 [Gene]
  • LOC129931304:ATAC-STARR-seq lymphoblastoid silent region 1246 [Gene]
  • LOC129931305:ATAC-STARR-seq lymphoblastoid silent region 1247 [Gene]
  • LOC129931308:ATAC-STARR-seq lymphoblastoid silent region 1248 [Gene]
  • ATP1A1-AS1:ATP1A1 antisense RNA 1 [Gene - OMIM - HGNC]
  • ATP1A1:ATPase Na+/K+ transporting subunit alpha 1 [Gene - OMIM - HGNC]
  • LOC126805840:BRD4-independent group 4 enhancer GRCh37_chr1:117532703-117533902 [Gene]
  • LOC126805841:BRD4-independent group 4 enhancer GRCh37_chr1:117560254-117561453 [Gene]
  • LOC126805845:BRD4-independent group 4 enhancer GRCh37_chr1:118881859-118883058 [Gene]
  • CD101-AS1:CD101 antisense RNA 1 [Gene - HGNC]
  • CD101:CD101 molecule [Gene - OMIM - HGNC]
  • LOC107161156:CD2 5' regulatory region [Gene]
  • CD2-LCR:CD2 locus control region [Gene]
  • CD2:CD2 molecule [Gene - OMIM - HGNC]
  • CD58:CD58 molecule [Gene - OMIM - HGNC]
  • LOC126805842:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:117619501-117620700 [Gene]
  • LOC126805843:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:117689065-117690264 [Gene]
  • LOC126805844:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:118380956-118382155 [Gene]
  • LOC126805846:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:119407731-119408930 [Gene]
  • LOC115801440:CRISPRi-validated cis-regulatory element chr1.8038 [Gene]
  • LOC115801441:CRISPRi-validated cis-regulatory element chr1.8052 [Gene]
  • HAO2-IT1:HAO2 intronic transcript 1 [Gene - HGNC]
  • LOC111365211:HNF1 motif-containing MPRA enhancer 99 [Gene]
  • LOC109029529:HSD3B1 5' regulatory region [Gene]
  • LOC109029530:HSD3B2 5' regulatory region [Gene]
  • LOC126805838:MED14-independent group 3 enhancer GRCh37_chr1:116609321-116610520 [Gene]
  • LOC126805839:MED14-independent group 3 enhancer GRCh37_chr1:117421310-117422509 [Gene]
  • LOC126805847:MED14-independent group 3 enhancer GRCh37_chr1:119900810-119902009 [Gene]
  • LOC126805848:MED14-independent group 3 enhancer GRCh37_chr1:120147336-120148535 [Gene]
  • LOC129388594:MPRA-validated peak385 silencer [Gene]
  • LOC129388595:MPRA-validated peak386 silencer [Gene]
  • LOC129388596:MPRA-validated peak388 silencer [Gene]
  • LOC129388597:MPRA-validated peak393 silencer [Gene]
  • LOC129388598:MPRA-validated peak395 silencer [Gene]
  • LOC129388599:MPRA-validated peak396 silencer [Gene]
  • LOC129388600:MPRA-validated peak397 silencer [Gene]
  • LOC132090666:Neanderthal introgressed variant-containing enhancer experimental_115 [Gene]
  • LOC122094907:Sharpr-MPRA regulatory region 10090 [Gene]
  • LOC111776218:Sharpr-MPRA regulatory region 11377/13297 [Gene]
  • LOC121725047:Sharpr-MPRA regulatory region 11424 [Gene]
  • LOC122094911:Sharpr-MPRA regulatory region 12070 [Gene]
  • LOC112577483:Sharpr-MPRA regulatory region 12485 [Gene]
  • LOC120893157:Sharpr-MPRA regulatory region 12934 [Gene]
  • LOC121725050:Sharpr-MPRA regulatory region 13290 [Gene]
  • LOC122094910:Sharpr-MPRA regulatory region 1341 [Gene]
  • LOC112577485:Sharpr-MPRA regulatory region 13757 [Gene]
  • LOC112577481:Sharpr-MPRA regulatory region 13778 [Gene]
  • LOC112577484:Sharpr-MPRA regulatory region 2959 [Gene]
  • LOC121725048:Sharpr-MPRA regulatory region 4262 [Gene]
  • LOC122094908:Sharpr-MPRA regulatory region 504 [Gene]
  • LOC113939978:Sharpr-MPRA regulatory region 5383 [Gene]
  • LOC122094909:Sharpr-MPRA regulatory region 8207 [Gene]
  • LOC121725049:Sharpr-MPRA regulatory region 9503 [Gene]
  • TBX15:T-box transcription factor 15 [Gene - OMIM - HGNC]
  • TENT5C-DT:TENT5C divergent transcript [Gene - HGNC]
  • VTCN1:V-set domain containing T cell activation inhibitor 1 [Gene - OMIM - HGNC]
  • LOC110121098:VISTA enhancer hs1428 [Gene]
  • WARS2-AS1:WARS2 antisense RNA 1 [Gene - HGNC]
  • WARS2-IT1:WARS2 intronic transcript 1 [Gene - HGNC]
  • WDR3:WD repeat domain 3 [Gene - OMIM - HGNC]
  • GDAP2:ganglioside induced differentiation associated protein 2 [Gene - OMIM - HGNC]
  • HSD3B1:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [Gene - OMIM - HGNC]
  • HSD3B2:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Gene - OMIM - HGNC]
  • HAO2:hydroxyacid oxidase 2 [Gene - OMIM - HGNC]
  • IGSF3:immunoglobulin superfamily member 3 [Gene - OMIM - HGNC]
  • LINC01525:long intergenic non-protein coding RNA 1525 [Gene - HGNC]
  • LINC01762:long intergenic non-protein coding RNA 1762 [Gene - HGNC]
  • LINC01780:long intergenic non-protein coding RNA 1780 [Gene - HGNC]
  • LINC02868:long intergenic non-protein coding RNA 2868 [Gene - HGNC]
  • LINC00622:long intergenic non-protein coding RNA 622 [Gene - HGNC]
  • MAB21L3:mab-21 like 3 [Gene - HGNC]
  • MAN1A2:mannosidase alpha class 1A member 2 [Gene - OMIM - HGNC]
  • MIR320B1:microRNA 320b-1 [Gene - HGNC]
  • MIR548AC:microRNA 548ac [Gene - HGNC]
  • MIR942:microRNA 942 [Gene - HGNC]
  • LOC120807608:negCOR silencer S9 [Gene]
  • NOTCH2:notch receptor 2 [Gene - OMIM - HGNC]
  • PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]
  • PTGFRN:prostaglandin F2 receptor inhibitor [Gene - OMIM - HGNC]
  • REG4:regenerating family member 4 [Gene - OMIM - HGNC]
  • LOC111721703:skeletal muscle cis-regulatory module in TBX15 intron [Gene]
  • SLC22A15:solute carrier family 22 member 15 [Gene - OMIM - HGNC]
  • SPAG17:sperm associated antigen 17 [Gene - OMIM - HGNC]
  • TENT5C:terminal nucleotidyltransferase 5C [Gene - OMIM - HGNC]
  • TTF2:transcription termination factor 2 [Gene - OMIM - HGNC]
  • TRIM45:tripartite motif containing 45 [Gene - OMIM - HGNC]
  • WARS2:tryptophanyl tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • LOC105378933:uncharacterized LOC105378933 [Gene]
  • ZNF697:zinc finger protein 697 [Gene - HGNC]
...more
Variant type:
copy number gain
Cytogenetic location:
1p13.1-12
Genomic location:
Preferred name:
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3
HGVS:
  • NC_000001.11:g.(?_116059621)_(120130051_?)dup
  • NC_000001.10:g.(?_116602242)_(120672637_?)dup
  • NC_000001.9:g.(?_116403765)_(120474160_?)dup
Links:
dbVar: nssv578529; dbVar: nsv530353
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000079179GeneDx
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]

Last Updated: Oct 14, 2023

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