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GRCh38/hg38 1q41(chr1:215447347-221971832)x3 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:
RCV000051874.5

Allele description [Variation Report for GRCh38/hg38 1q41(chr1:215447347-221971832)x3]

GRCh38/hg38 1q41(chr1:215447347-221971832)x3

Genes:
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
  • LOC129932506:ATAC-STARR-seq lymphoblastoid active region 2536 [Gene]
  • LOC129932508:ATAC-STARR-seq lymphoblastoid active region 2537 [Gene]
  • LOC129932509:ATAC-STARR-seq lymphoblastoid active region 2538 [Gene]
  • LOC129932510:ATAC-STARR-seq lymphoblastoid active region 2539 [Gene]
  • LOC129932511:ATAC-STARR-seq lymphoblastoid active region 2540 [Gene]
  • LOC129932513:ATAC-STARR-seq lymphoblastoid active region 2541 [Gene]
  • LOC129932515:ATAC-STARR-seq lymphoblastoid active region 2542 [Gene]
  • LOC129932516:ATAC-STARR-seq lymphoblastoid active region 2543 [Gene]
  • LOC129932517:ATAC-STARR-seq lymphoblastoid active region 2544 [Gene]
  • LOC129932518:ATAC-STARR-seq lymphoblastoid active region 2545 [Gene]
  • LOC129932519:ATAC-STARR-seq lymphoblastoid active region 2546 [Gene]
  • LOC129932521:ATAC-STARR-seq lymphoblastoid active region 2547 [Gene]
  • LOC129932522:ATAC-STARR-seq lymphoblastoid active region 2549 [Gene]
  • LOC129932523:ATAC-STARR-seq lymphoblastoid active region 2550 [Gene]
  • LOC129932524:ATAC-STARR-seq lymphoblastoid active region 2551 [Gene]
  • LOC129932525:ATAC-STARR-seq lymphoblastoid active region 2552 [Gene]
  • LOC129932526:ATAC-STARR-seq lymphoblastoid active region 2553 [Gene]
  • LOC129932527:ATAC-STARR-seq lymphoblastoid active region 2554 [Gene]
  • LOC129932531:ATAC-STARR-seq lymphoblastoid active region 2555 [Gene]
  • LOC129932532:ATAC-STARR-seq lymphoblastoid active region 2556 [Gene]
  • LOC129932533:ATAC-STARR-seq lymphoblastoid active region 2557 [Gene]
  • LOC129932537:ATAC-STARR-seq lymphoblastoid active region 2558 [Gene]
  • LOC129932540:ATAC-STARR-seq lymphoblastoid active region 2559 [Gene]
  • LOC129932541:ATAC-STARR-seq lymphoblastoid active region 2560 [Gene]
  • LOC129932542:ATAC-STARR-seq lymphoblastoid active region 2561 [Gene]
  • LOC129932543:ATAC-STARR-seq lymphoblastoid active region 2562 [Gene]
  • LOC129932544:ATAC-STARR-seq lymphoblastoid active region 2563 [Gene]
  • LOC129932546:ATAC-STARR-seq lymphoblastoid active region 2566 [Gene]
  • LOC129932547:ATAC-STARR-seq lymphoblastoid active region 2567 [Gene]
  • LOC129932548:ATAC-STARR-seq lymphoblastoid active region 2568 [Gene]
  • LOC129932549:ATAC-STARR-seq lymphoblastoid active region 2569 [Gene]
  • LOC129932550:ATAC-STARR-seq lymphoblastoid active region 2570 [Gene]
  • LOC129932551:ATAC-STARR-seq lymphoblastoid active region 2573 [Gene]
  • LOC129932505:ATAC-STARR-seq lymphoblastoid silent region 1817 [Gene]
  • LOC129932507:ATAC-STARR-seq lymphoblastoid silent region 1818 [Gene]
  • LOC129932512:ATAC-STARR-seq lymphoblastoid silent region 1819 [Gene]
  • LOC129932514:ATAC-STARR-seq lymphoblastoid silent region 1820 [Gene]
  • LOC129932520:ATAC-STARR-seq lymphoblastoid silent region 1821 [Gene]
  • LOC129932528:ATAC-STARR-seq lymphoblastoid silent region 1822 [Gene]
  • LOC129932529:ATAC-STARR-seq lymphoblastoid silent region 1823 [Gene]
  • LOC129932530:ATAC-STARR-seq lymphoblastoid silent region 1824 [Gene]
  • LOC129932534:ATAC-STARR-seq lymphoblastoid silent region 1825 [Gene]
  • LOC129932535:ATAC-STARR-seq lymphoblastoid silent region 1826 [Gene]
  • LOC129932536:ATAC-STARR-seq lymphoblastoid silent region 1827 [Gene]
  • LOC129932538:ATAC-STARR-seq lymphoblastoid silent region 1828 [Gene]
  • LOC129932539:ATAC-STARR-seq lymphoblastoid silent region 1829 [Gene]
  • LOC129932545:ATAC-STARR-seq lymphoblastoid silent region 1830 [Gene]
  • LOC126806017:BRD4-independent group 4 enhancer GRCh37_chr1:220869747-220870946 [Gene]
  • LOC126806018:BRD4-independent group 4 enhancer GRCh37_chr1:220986059-220987258 [Gene]
  • LOC126806008:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:215756646-215757845 [Gene]
  • LOC126806012:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:219615440-219616639 [Gene]
  • LOC126806013:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:219674825-219676024 [Gene]
  • LOC126806021:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:221887070-221888269 [Gene]
  • LOC111429604:FOXA motif-containing MPRA enhancer 201 [Gene]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
  • HLX-AS1:HLX antisense RNA 1 [Gene - HGNC]
  • LYPLAL1-AS1:LYPLAL1 antisense RNA 1 [Gene - HGNC]
  • LYPLAL1-DT:LYPLAL1 divergent transcript [Gene - HGNC]
  • LOC126806009:MED14-independent group 3 enhancer GRCh37_chr1:216230868-216232067 [Gene]
  • LOC126806011:MED14-independent group 3 enhancer GRCh37_chr1:218774035-218775234 [Gene]
  • LOC126806015:MED14-independent group 3 enhancer GRCh37_chr1:220440608-220441807 [Gene]
  • LOC126806016:MED14-independent group 3 enhancer GRCh37_chr1:220509233-220510432 [Gene]
  • LOC126806019:MED14-independent group 3 enhancer GRCh37_chr1:221508768-221509967 [Gene]
  • LOC129388748:MPRA-validated peak693 silencer [Gene]
  • LOC129388749:MPRA-validated peak696 silencer [Gene]
  • LOC129388750:MPRA-validated peak697 silencer [Gene]
  • LOC129388751:MPRA-validated peak701 silencer [Gene]
  • LOC129388752:MPRA-validated peak704 silencer [Gene]
  • LOC129388753:MPRA-validated peak705 silencer [Gene]
  • LOC129388754:MPRA-validated peak706 silencer [Gene]
  • LOC132088647:Neanderthal introgressed variant-containing enhancer experimental_4139 [Gene]
  • LOC132088648:Neanderthal introgressed variant-containing enhancer experimental_4209 [Gene]
  • LOC132088649:Neanderthal introgressed variant-containing enhancer experimental_4286 [Gene]
  • LOC132088650:Neanderthal introgressed variant-containing enhancer experimental_4347 [Gene]
  • LOC132088651:Neanderthal introgressed variant-containing enhancer experimental_4384 [Gene]
  • LOC132088652:Neanderthal introgressed variant-containing enhancer experimental_4410 [Gene]
  • LOC132088653:Neanderthal introgressed variant-containing enhancer experimental_4481 [Gene]
  • LOC132088654:Neanderthal introgressed variant-containing enhancer experimental_4814 [Gene]
  • LOC132088656:Neanderthal introgressed variant-containing enhancer experimental_4879 [Gene]
  • LOC132088657:Neanderthal introgressed variant-containing enhancer experimental_4904 [Gene]
  • LOC132088658:Neanderthal introgressed variant-containing enhancer experimental_4917 [Gene]
  • LOC126806010:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:217833249-217834448 [Gene]
  • LOC126806014:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:219883505-219884704 [Gene]
  • LOC126806020:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:221613046-221614245 [Gene]
  • LOC126806022:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:222012693-222013892 [Gene]
  • RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
  • SPATA17-AS1:SPATA17 antisense RNA 1 [Gene - HGNC]
  • LOC122152297:Sharpr-MPRA regulatory region 11696 [Gene]
  • LOC120908910:Sharpr-MPRA regulatory region 12019 [Gene]
  • LOC122152302:Sharpr-MPRA regulatory region 1437 [Gene]
  • LOC120908907:Sharpr-MPRA regulatory region 1545 [Gene]
  • LOC122152298:Sharpr-MPRA regulatory region 1921 [Gene]
  • LOC122152301:Sharpr-MPRA regulatory region 2527 [Gene]
  • LOC120908909:Sharpr-MPRA regulatory region 297 [Gene]
  • LOC122152303:Sharpr-MPRA regulatory region 4850 [Gene]
  • LOC122152300:Sharpr-MPRA regulatory region 6480 [Gene]
  • LOC122152299:Sharpr-MPRA regulatory region 7160 [Gene]
  • LOC120908908:Sharpr-MPRA regulatory region 8131 [Gene]
  • LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
  • LOC121725074:Sharpr-MPRA regulatory region 9893 [Gene]
  • TGFB2-AS1:TGFB2 antisense RNA 1 (head to head) [Gene - HGNC]
  • TGFB2-OT1:TGFB2 overlapping transcript 1 [Gene - HGNC]
  • USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
  • USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
  • LOC110121042:VISTA enhancer hs1257 [Gene]
  • C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • LINC01352:long intergenic non-protein coding RNA 1352 [Gene - HGNC]
  • LINC01653:long intergenic non-protein coding RNA 1653 [Gene - HGNC]
  • LINC01655:long intergenic non-protein coding RNA 1655 [Gene - HGNC]
  • LINC01710:long intergenic non-protein coding RNA 1710 [Gene - HGNC]
  • LINC00210:long intergenic non-protein coding RNA 210 [Gene - HGNC]
  • LINC02257:long intergenic non-protein coding RNA 2257 [Gene - HGNC]
  • LINC02474:long intergenic non-protein coding RNA 2474 [Gene - HGNC]
  • LINC02779:long intergenic non-protein coding RNA 2779 [Gene - HGNC]
  • LINC02817:long intergenic non-protein coding RNA 2817 [Gene - HGNC]
  • LINC02869:long intergenic non-protein coding RNA 2869 [Gene - HGNC]
  • LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
  • MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
  • MIR215:microRNA 215 [Gene - OMIM - HGNC]
  • MIR664A:microRNA 664a [Gene - HGNC]
  • MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
  • MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
  • MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
  • RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
  • SNORA36B:small nucleolar RNA, H/ACA box 36B [Gene - HGNC]
  • SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
  • TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
  • ZC3H11B:zinc finger CCCH-type containing 11B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q41
Genomic location:
Preferred name:
GRCh38/hg38 1q41(chr1:215447347-221971832)x3
HGVS:
  • NC_000001.11:g.(?_215447347)_(221971832_?)dup
  • NC_000001.10:g.(?_215620690)_(222145174_?)dup
  • NC_000001.9:g.(?_213687313)_(220211797_?)dup
Links:
dbVar: nssv578542; dbVar: nsv530587
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
SCV000079222GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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, SCV000079222.5

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

Last Updated: Oct 14, 2023