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GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)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:
RCV000053187.5

Allele description [Variation Report for GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3]

GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3

Genes:
  • LOC129931324:ATAC-STARR-seq lymphoblastoid active region 1608 [Gene]
  • LOC129931325:ATAC-STARR-seq lymphoblastoid active region 1609 [Gene]
  • LOC129931328:ATAC-STARR-seq lymphoblastoid active region 1610 [Gene]
  • LOC129931329:ATAC-STARR-seq lymphoblastoid active region 1611 [Gene]
  • LOC129931330:ATAC-STARR-seq lymphoblastoid active region 1612 [Gene]
  • LOC129931331:ATAC-STARR-seq lymphoblastoid active region 1613 [Gene]
  • LOC129931332:ATAC-STARR-seq lymphoblastoid active region 1614 [Gene]
  • LOC129931338:ATAC-STARR-seq lymphoblastoid active region 1616 [Gene]
  • LOC129931339:ATAC-STARR-seq lymphoblastoid active region 1617 [Gene]
  • LOC129931342:ATAC-STARR-seq lymphoblastoid active region 1621 [Gene]
  • LOC129931343:ATAC-STARR-seq lymphoblastoid active region 1622 [Gene]
  • LOC129931344:ATAC-STARR-seq lymphoblastoid active region 1626 [Gene]
  • LOC129931345:ATAC-STARR-seq lymphoblastoid active region 1627 [Gene]
  • LOC129931346:ATAC-STARR-seq lymphoblastoid active region 1628 [Gene]
  • LOC129931349:ATAC-STARR-seq lymphoblastoid active region 1629 [Gene]
  • LOC129931358:ATAC-STARR-seq lymphoblastoid active region 1635 [Gene]
  • LOC129931359:ATAC-STARR-seq lymphoblastoid active region 1637 [Gene]
  • LOC129931360:ATAC-STARR-seq lymphoblastoid active region 1638 [Gene]
  • LOC129931361:ATAC-STARR-seq lymphoblastoid active region 1639 [Gene]
  • LOC129931362:ATAC-STARR-seq lymphoblastoid active region 1640 [Gene]
  • LOC129931363:ATAC-STARR-seq lymphoblastoid active region 1641 [Gene]
  • LOC129931364:ATAC-STARR-seq lymphoblastoid active region 1648 [Gene]
  • LOC129931366:ATAC-STARR-seq lymphoblastoid active region 1649 [Gene]
  • LOC129931368:ATAC-STARR-seq lymphoblastoid active region 1650 [Gene]
  • LOC129931322:ATAC-STARR-seq lymphoblastoid silent region 1258 [Gene]
  • LOC129931323:ATAC-STARR-seq lymphoblastoid silent region 1260 [Gene]
  • LOC129931326:ATAC-STARR-seq lymphoblastoid silent region 1262 [Gene]
  • LOC129931327:ATAC-STARR-seq lymphoblastoid silent region 1263 [Gene]
  • LOC129931333:ATAC-STARR-seq lymphoblastoid silent region 1264 [Gene]
  • LOC129931334:ATAC-STARR-seq lymphoblastoid silent region 1265 [Gene]
  • LOC129931335:ATAC-STARR-seq lymphoblastoid silent region 1266 [Gene]
  • LOC129931336:ATAC-STARR-seq lymphoblastoid silent region 1267 [Gene]
  • LOC129931337:ATAC-STARR-seq lymphoblastoid silent region 1268 [Gene]
  • LOC129931340:ATAC-STARR-seq lymphoblastoid silent region 1269 [Gene]
  • LOC129931341:ATAC-STARR-seq lymphoblastoid silent region 1270 [Gene]
  • LOC129931347:ATAC-STARR-seq lymphoblastoid silent region 1271 [Gene]
  • LOC129931348:ATAC-STARR-seq lymphoblastoid silent region 1272 [Gene]
  • LOC129931350:ATAC-STARR-seq lymphoblastoid silent region 1273 [Gene]
  • LOC129931351:ATAC-STARR-seq lymphoblastoid silent region 1276 [Gene]
  • LOC129931352:ATAC-STARR-seq lymphoblastoid silent region 1277 [Gene]
  • LOC129931353:ATAC-STARR-seq lymphoblastoid silent region 1278 [Gene]
  • LOC129931354:ATAC-STARR-seq lymphoblastoid silent region 1279 [Gene]
  • LOC129931355:ATAC-STARR-seq lymphoblastoid silent region 1280 [Gene]
  • LOC129931356:ATAC-STARR-seq lymphoblastoid silent region 1281 [Gene]
  • LOC129931357:ATAC-STARR-seq lymphoblastoid silent region 1282 [Gene]
  • LOC129931365:ATAC-STARR-seq lymphoblastoid silent region 1286 [Gene]
  • LOC129931367:ATAC-STARR-seq lymphoblastoid silent region 1287 [Gene]
  • BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
  • LOC126088084:BRD4-independent group 4 enhancer GRCh37_chr1:144867459-144868658 [Gene]
  • LOC108254679:BRD4-independent group 4 enhancer GRCh37_chr1:145455010-145456209 [Gene]
  • LOC126805854:BRD4-independent group 4 enhancer GRCh37_chr1:146764440-146765639 [Gene]
  • CD160:CD160 molecule [Gene - OMIM - HGNC]
  • LOC126805850:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145584188-145585387 [Gene]
  • LOC126805849:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145727451-145728650 [Gene]
  • LOC126805852:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:146501494-146502693 [Gene]
  • GPR89A:G protein-coupled receptor 89A [Gene - OMIM - HGNC]
  • GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
  • LOC111556113:HNF4 motif-containing MPRA enhancer 9 [Gene]
  • LIX1L-AS1:LIX1L antisense RNA 1 [Gene - HGNC]
  • LOC126805851:MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 [Gene]
  • LOC129388601:MPRA-validated peak399 silencer [Gene]
  • LOC129388602:MPRA-validated peak400 silencer [Gene]
  • LOC129388603:MPRA-validated peak402 silencer [Gene]
  • LOC129388604:MPRA-validated peak403 silencer [Gene]
  • NBPF10:NBPF member 10 [Gene - OMIM - HGNC]
  • NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
  • NBPF12:NBPF member 12 [Gene - OMIM - HGNC]
  • NBPF14:NBPF member 14 [Gene - OMIM - HGNC]
  • NBPF20:NBPF member 20 [Gene - OMIM - HGNC]
  • NBPF9:NBPF member 9 [Gene - OMIM - HGNC]
  • LOC126088083:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:144891435-144892634 [Gene]
  • LOC126805853:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 [Gene]
  • PDZK1:PDZ domain containing 1 [Gene - OMIM - HGNC]
  • RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]
  • POLR3C:RNA polymerase III subunit C [Gene - OMIM - HGNC]
  • POLR3GL:RNA polymerase III subunit GL [Gene - OMIM - HGNC]
  • RNVU1-14:RNA, variant U1 small nuclear 14 [Gene - HGNC]
  • RNVU1-1:RNA, variant U1 small nuclear 1 [Gene - HGNC]
  • RNVU1-27:RNA, variant U1 small nuclear 27 [Gene - HGNC]
  • RNVU1-31:RNA, variant U1 small nuclear 31 [Gene - HGNC]
  • RNVU1-3:RNA, variant U1 small nuclear 3 [Gene - HGNC]
  • RNVU1-6:RNA, variant U1 small nuclear 6 [Gene - HGNC]
  • RNVU1-7:RNA, variant U1 small nuclear 7 [Gene - HGNC]
  • RNVU1-8:RNA, variant U1 small nuclear 8 [Gene - HGNC]
  • SRGAP2B:SLIT-ROBO Rho GTPase activating protein 2B [Gene - OMIM - HGNC]
  • LOC121725052:Sharpr-MPRA regulatory region 10305 [Gene]
  • LOC120893158:Sharpr-MPRA regulatory region 11936 [Gene]
  • LOC122128415:Sharpr-MPRA regulatory region 154 duplicate 3 [Gene]
  • LOC122094913:Sharpr-MPRA regulatory region 15698 duplicate 2 [Gene]
  • LOC122128418:Sharpr-MPRA regulatory region 1883 duplicate 3 [Gene]
  • LOC122128420:Sharpr-MPRA regulatory region 3144 [Gene]
  • LOC122128410:Sharpr-MPRA regulatory region 356 duplicate 2 [Gene]
  • LOC112577490:Sharpr-MPRA regulatory region 3868 [Gene]
  • LOC122128419:Sharpr-MPRA regulatory region 4010 [Gene]
  • LOC121725051:Sharpr-MPRA regulatory region 5908 [Gene]
  • LOC121725053:Sharpr-MPRA regulatory region 879 [Gene]
  • LOC110121261:VISTA enhancer hs2126 [Gene]
  • ACP6:acid phosphatase 6, lysophosphatidic [Gene - OMIM - HGNC]
  • ANKRD34A:ankyrin repeat domain 34A [Gene - HGNC]
  • ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
  • CHD1L:chromodomain helicase DNA binding protein 1 like [Gene - OMIM - HGNC]
  • LOC106783502:conserved acetylation island sequence C12 enhancer [Gene]
  • FAM72D:family with sequence similarity 72 member D [Gene - OMIM - HGNC]
  • FMO5:flavin containing dimethylaniline monoxygenase 5 [Gene - OMIM - HGNC]
  • GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
  • GJA8:gap junction protein alpha 8 [Gene - OMIM - HGNC]
  • HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]
  • ITGA10:integrin subunit alpha 10 [Gene - OMIM - HGNC]
  • LIX1L:limb and CNS expressed 1 like [Gene - HGNC]
  • LINC01138:long intergenic non-protein coding RNA 1138 [Gene - HGNC]
  • LINC01145:long intergenic non-protein coding RNA 1145 [Gene - HGNC]
  • LINC01719:long intergenic non-protein coding RNA 1719 [Gene - HGNC]
  • LINC01731:long intergenic non-protein coding RNA 1731 [Gene - HGNC]
  • LINC02805:long intergenic non-protein coding RNA 2805 [Gene - HGNC]
  • LINC02806:long intergenic non-protein coding RNA 2806 [Gene - HGNC]
  • LINC00624:long intergenic non-protein coding RNA 624 [Gene - HGNC]
  • MIR5087:microRNA 5087 [Gene - HGNC]
  • MIR6077:microRNA 6077 [Gene - HGNC]
  • MIR6736:microRNA 6736 [Gene - HGNC]
  • NOTCH2NLA:notch 2 N-terminal like A [Gene - OMIM - HGNC]
  • NOTCH2NLB:notch 2 N-terminal like B [Gene - OMIM - HGNC]
  • NUDT17:nudix hydrolase 17 [Gene - HGNC]
  • NUDT4B:nudix hydrolase 4B [Gene - HGNC]
  • PPIAL4D:peptidylprolyl isomerase A like 4D [Gene - HGNC]
  • PPIAL4F:peptidylprolyl isomerase A like 4F [Gene - HGNC]
  • PPIAL4G:peptidylprolyl isomerase A like 4G [Gene - HGNC]
  • PPIAL4H:peptidylprolyl isomerase A like 4H [Gene - HGNC]
  • PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM - HGNC]
  • PDE4DIP:phosphodiesterase 4D interacting protein [Gene - OMIM - HGNC]
  • PIAS3:protein inhibitor of activated STAT 3 [Gene - OMIM - HGNC]
  • PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - HGNC]
  • RNF115:ring finger protein 115 [Gene - OMIM - HGNC]
  • TRN-GTT10-1:tRNA-Asn (anticodon GTT) 10-1 [Gene - HGNC]
  • TRN-GTT2-1:tRNA-Asn (anticodon GTT) 2-1 [Gene - HGNC]
  • TRN-GTT2-7:tRNA-Asn (anticodon GTT) 2-7 [Gene - OMIM - HGNC]
  • TRN-GTT24-1:tRNA-Asn (anticodon GTT) 24-1 [Gene - HGNC]
  • TRN-GTT9-1:tRNA-Asn (anticodon GTT) 9-1 [Gene - HGNC]
  • TRN-GTT9-2:tRNA-Asn (anticodon GTT) 9-2 [Gene - HGNC]
  • TRQ-CTG3-1:tRNA-Gln (anticodon CTG) 3-1 [Gene - HGNC]
  • TRQ-CTG3-2:tRNA-Gln (anticodon CTG) 3-2 [Gene - HGNC]
  • TRQ-CTG4-1:tRNA-Gln (anticodon CTG) 4-1 [Gene - HGNC]
  • TRQ-CTG7-1:tRNA-Gln (anticodon CTG) 7-1 [Gene - HGNC]
  • TRE-CTC1-1:tRNA-Glu (anticodon CTC) 1-1 [Gene - HGNC]
  • TRG-TCC2-1:tRNA-Gly (anticodon TCC) 2-1 [Gene - HGNC]
  • TRH-GTG1-1:tRNA-His (anticodon GTG) 1-1 [Gene - HGNC]
  • TRH-GTG1-2:tRNA-His (anticodon GTG) 1-2 [Gene - HGNC]
  • TRH-GTG1-3:tRNA-His (anticodon GTG) 1-3 [Gene - HGNC]
  • TRH-GTG1-4:tRNA-His (anticodon GTG) 1-4 [Gene - HGNC]
  • TRK-CTT2-1:tRNA-Lys (anticodon CTT) 2-1 [Gene - HGNC]
  • TXNIP:thioredoxin interacting protein [Gene - OMIM - HGNC]
  • LOC100996740:uncharacterized LOC100996740 [Gene]
  • LOC101927468:uncharacterized LOC101927468 [Gene]
  • CH17-408M7.1:uncharacterized LOC102724558 [Gene]
  • LOC105371215:uncharacterized LOC105371215 [Gene]
  • LOC128071544:uncharacterized LOC128071544 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1q21.1-21.2
Genomic location:
Preferred name:
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3
HGVS:
  • NC_000001.11:g.(?_144572470)_(149076087_?)dup
  • NC_000001.10:g.(?_145764368)_(148752268_?)dup
  • NC_000001.9:g.(?_144475725)_(147018892_?)dup
Links:
dbVar: nssv576935; dbVar: nsv531867
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
SCV000080545GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000080545.5

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

Last Updated: Nov 20, 2023