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GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 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:
RCV000142452.7

Allele description [Variation Report for GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3]

GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3

Genes:
  • ANKRD13C-DT:ANKRD13C divergent transcript [Gene - OMIM - HGNC]
  • LOC129930677:ATAC-STARR-seq lymphoblastoid active region 1129 [Gene]
  • LOC129930678:ATAC-STARR-seq lymphoblastoid active region 1130 [Gene]
  • LOC129930679:ATAC-STARR-seq lymphoblastoid active region 1131 [Gene]
  • LOC129930680:ATAC-STARR-seq lymphoblastoid active region 1132 [Gene]
  • LOC129930681:ATAC-STARR-seq lymphoblastoid active region 1133 [Gene]
  • LOC129930682:ATAC-STARR-seq lymphoblastoid active region 1134 [Gene]
  • LOC129930684:ATAC-STARR-seq lymphoblastoid active region 1135 [Gene]
  • LOC129930685:ATAC-STARR-seq lymphoblastoid active region 1136 [Gene]
  • LOC129930686:ATAC-STARR-seq lymphoblastoid active region 1137 [Gene]
  • LOC129930687:ATAC-STARR-seq lymphoblastoid active region 1138 [Gene]
  • LOC129930688:ATAC-STARR-seq lymphoblastoid active region 1139 [Gene]
  • LOC129930690:ATAC-STARR-seq lymphoblastoid active region 1140 [Gene]
  • LOC129930697:ATAC-STARR-seq lymphoblastoid active region 1141 [Gene]
  • LOC129930698:ATAC-STARR-seq lymphoblastoid active region 1142 [Gene]
  • LOC129930699:ATAC-STARR-seq lymphoblastoid active region 1143 [Gene]
  • LOC129930703:ATAC-STARR-seq lymphoblastoid active region 1144 [Gene]
  • LOC129930704:ATAC-STARR-seq lymphoblastoid active region 1145 [Gene]
  • LOC129930705:ATAC-STARR-seq lymphoblastoid active region 1146 [Gene]
  • LOC129930706:ATAC-STARR-seq lymphoblastoid active region 1147 [Gene]
  • LOC129930707:ATAC-STARR-seq lymphoblastoid active region 1148 [Gene]
  • LOC129930708:ATAC-STARR-seq lymphoblastoid active region 1149 [Gene]
  • LOC129930709:ATAC-STARR-seq lymphoblastoid active region 1150 [Gene]
  • LOC129930710:ATAC-STARR-seq lymphoblastoid active region 1151 [Gene]
  • LOC129930711:ATAC-STARR-seq lymphoblastoid active region 1152 [Gene]
  • LOC129930712:ATAC-STARR-seq lymphoblastoid active region 1153 [Gene]
  • LOC129930713:ATAC-STARR-seq lymphoblastoid active region 1154 [Gene]
  • LOC129930714:ATAC-STARR-seq lymphoblastoid active region 1155 [Gene]
  • LOC129930715:ATAC-STARR-seq lymphoblastoid active region 1156 [Gene]
  • LOC129930716:ATAC-STARR-seq lymphoblastoid active region 1157 [Gene]
  • LOC129930717:ATAC-STARR-seq lymphoblastoid active region 1158 [Gene]
  • LOC129930718:ATAC-STARR-seq lymphoblastoid active region 1159 [Gene]
  • LOC129930719:ATAC-STARR-seq lymphoblastoid active region 1160 [Gene]
  • LOC129930720:ATAC-STARR-seq lymphoblastoid active region 1164 [Gene]
  • LOC129930721:ATAC-STARR-seq lymphoblastoid active region 1165 [Gene]
  • LOC129930722:ATAC-STARR-seq lymphoblastoid active region 1166 [Gene]
  • LOC129930723:ATAC-STARR-seq lymphoblastoid active region 1167 [Gene]
  • LOC129930725:ATAC-STARR-seq lymphoblastoid active region 1168 [Gene]
  • LOC129930731:ATAC-STARR-seq lymphoblastoid active region 1169 [Gene]
  • LOC129930732:ATAC-STARR-seq lymphoblastoid active region 1170 [Gene]
  • LOC129930733:ATAC-STARR-seq lymphoblastoid active region 1171 [Gene]
  • LOC129930734:ATAC-STARR-seq lymphoblastoid active region 1172 [Gene]
  • LOC129930735:ATAC-STARR-seq lymphoblastoid active region 1173 [Gene]
  • LOC129930736:ATAC-STARR-seq lymphoblastoid active region 1174 [Gene]
  • LOC129930739:ATAC-STARR-seq lymphoblastoid active region 1175 [Gene]
  • LOC129930740:ATAC-STARR-seq lymphoblastoid active region 1176 [Gene]
  • LOC129930741:ATAC-STARR-seq lymphoblastoid active region 1177 [Gene]
  • LOC129930742:ATAC-STARR-seq lymphoblastoid active region 1180 [Gene]
  • LOC129930748:ATAC-STARR-seq lymphoblastoid active region 1183 [Gene]
  • LOC129930749:ATAC-STARR-seq lymphoblastoid active region 1184 [Gene]
  • LOC129930750:ATAC-STARR-seq lymphoblastoid active region 1185 [Gene]
  • LOC129930752:ATAC-STARR-seq lymphoblastoid active region 1186 [Gene]
  • LOC129930753:ATAC-STARR-seq lymphoblastoid active region 1187 [Gene]
  • LOC129930754:ATAC-STARR-seq lymphoblastoid active region 1193 [Gene]
  • LOC129930755:ATAC-STARR-seq lymphoblastoid active region 1194 [Gene]
  • LOC129930757:ATAC-STARR-seq lymphoblastoid active region 1195 [Gene]
  • LOC129930758:ATAC-STARR-seq lymphoblastoid active region 1196 [Gene]
  • LOC129930760:ATAC-STARR-seq lymphoblastoid active region 1197 [Gene]
  • LOC129930762:ATAC-STARR-seq lymphoblastoid active region 1198 [Gene]
  • LOC129930766:ATAC-STARR-seq lymphoblastoid active region 1199 [Gene]
  • LOC129930767:ATAC-STARR-seq lymphoblastoid active region 1201 [Gene]
  • LOC129930674:ATAC-STARR-seq lymphoblastoid silent region 955 [Gene]
  • LOC129930675:ATAC-STARR-seq lymphoblastoid silent region 956 [Gene]
  • LOC129930676:ATAC-STARR-seq lymphoblastoid silent region 957 [Gene]
  • LOC129930683:ATAC-STARR-seq lymphoblastoid silent region 958 [Gene]
  • LOC129930689:ATAC-STARR-seq lymphoblastoid silent region 959 [Gene]
  • LOC129930691:ATAC-STARR-seq lymphoblastoid silent region 960 [Gene]
  • LOC129930692:ATAC-STARR-seq lymphoblastoid silent region 961 [Gene]
  • LOC129930693:ATAC-STARR-seq lymphoblastoid silent region 962 [Gene]
  • LOC129930694:ATAC-STARR-seq lymphoblastoid silent region 963 [Gene]
  • LOC129930695:ATAC-STARR-seq lymphoblastoid silent region 964 [Gene]
  • LOC129930696:ATAC-STARR-seq lymphoblastoid silent region 965 [Gene]
  • LOC129930700:ATAC-STARR-seq lymphoblastoid silent region 968 [Gene]
  • LOC129930701:ATAC-STARR-seq lymphoblastoid silent region 969 [Gene]
  • LOC129930702:ATAC-STARR-seq lymphoblastoid silent region 970 [Gene]
  • LOC129930724:ATAC-STARR-seq lymphoblastoid silent region 973 [Gene]
  • LOC129930726:ATAC-STARR-seq lymphoblastoid silent region 974 [Gene]
  • LOC129930727:ATAC-STARR-seq lymphoblastoid silent region 975 [Gene]
  • LOC129930728:ATAC-STARR-seq lymphoblastoid silent region 976 [Gene]
  • LOC129930729:ATAC-STARR-seq lymphoblastoid silent region 977 [Gene]
  • LOC129930730:ATAC-STARR-seq lymphoblastoid silent region 978 [Gene]
  • LOC129930737:ATAC-STARR-seq lymphoblastoid silent region 979 [Gene]
  • LOC129930738:ATAC-STARR-seq lymphoblastoid silent region 980 [Gene]
  • LOC129930743:ATAC-STARR-seq lymphoblastoid silent region 981 [Gene]
  • LOC129930744:ATAC-STARR-seq lymphoblastoid silent region 982 [Gene]
  • LOC129930745:ATAC-STARR-seq lymphoblastoid silent region 983 [Gene]
  • LOC129930746:ATAC-STARR-seq lymphoblastoid silent region 984 [Gene]
  • LOC129930747:ATAC-STARR-seq lymphoblastoid silent region 986 [Gene]
  • LOC129930751:ATAC-STARR-seq lymphoblastoid silent region 987 [Gene]
  • LOC129930756:ATAC-STARR-seq lymphoblastoid silent region 989 [Gene]
  • LOC129930759:ATAC-STARR-seq lymphoblastoid silent region 990 [Gene]
  • LOC129930761:ATAC-STARR-seq lymphoblastoid silent region 991 [Gene]
  • LOC129930763:ATAC-STARR-seq lymphoblastoid silent region 992 [Gene]
  • LOC129930764:ATAC-STARR-seq lymphoblastoid silent region 993 [Gene]
  • LOC129930765:ATAC-STARR-seq lymphoblastoid silent region 994 [Gene]
  • LOC126805748:BRD4-independent group 4 enhancer GRCh37_chr1:64868467-64869666 [Gene]
  • LOC126805749:BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 [Gene]
  • LOC126805752:BRD4-independent group 4 enhancer GRCh37_chr1:68613408-68614607 [Gene]
  • LOC126805756:BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011 [Gene]
  • LOC126805759:BRD4-independent group 4 enhancer GRCh37_chr1:73648977-73650176 [Gene]
  • LOC126805754:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:68924860-68926059 [Gene]
  • LOC126805760:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75597021-75598220 [Gene]
  • LOC126805761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75841149-75842348 [Gene]
  • LOC115801429:CRISPRi-validated cis-regulatory element chr1.6815 [Gene]
  • LOC115801430:CRISPRi-validated cis-regulatory element chr1.6877 [Gene]
  • DEPDC1:DEP domain containing 1 [Gene - OMIM - HGNC]
  • DEPDC1-AS1:DEPDC1 antisense RNA 1 [Gene - HGNC]
  • DIRAS3:DIRAS family GTPase 3 [Gene - OMIM - HGNC]
  • DNAJC6-AS1:DNAJC6 antisense RNA 1 [Gene - HGNC]
  • DNAJC6:DnaJ heat shock protein family (Hsp40) member C6 [Gene - OMIM - HGNC]
  • ERICH3-AS1:ERICH3 antisense RNA 1 [Gene - HGNC]
  • FPGT-TNNI3K:FPGT-TNNI3K readthrough [Gene - HGNC]
  • GNG12:G protein subunit gamma 12 [Gene - OMIM - HGNC]
  • GNG12-AS1:GNG12, DIRAS3 and WLS antisense RNA 1 [Gene - OMIM - HGNC]
  • JAK1:Janus kinase 1 [Gene - OMIM - HGNC]
  • LHX8-AS1:LHX8 antisense RNA 1 [Gene - HGNC]
  • LHX8:LIM homeobox 8 [Gene - OMIM - HGNC]
  • LRRC7-AS1:LRRC7 antisense RNA 1 [Gene - HGNC]
  • LOC126805750:MED14-independent group 3 enhancer GRCh37_chr1:66866019-66867218 [Gene]
  • LOC126805755:MED14-independent group 3 enhancer GRCh37_chr1:69520590-69521789 [Gene]
  • LOC126805757:MED14-independent group 3 enhancer GRCh37_chr1:72466099-72467298 [Gene]
  • MIER1:MIER1 transcriptional regulator [Gene - OMIM - HGNC]
  • LOC129388543:MPRA-validated peak272 silencer [Gene]
  • LOC129388544:MPRA-validated peak274 silencer [Gene]
  • LOC129388545:MPRA-validated peak275 silencer [Gene]
  • LOC129388546:MPRA-validated peak278 silencer [Gene]
  • LOC129388547:MPRA-validated peak281 silencer [Gene]
  • LOC129388548:MPRA-validated peak283 silencer [Gene]
  • LOC129388549:MPRA-validated peak284 silencer [Gene]
  • LOC129388550:MPRA-validated peak287 silencer [Gene]
  • LOC129388551:MPRA-validated peak288 silencer [Gene]
  • LOC129388552:MPRA-validated peak289 silencer [Gene]
  • NEGR1-IT1:NEGR1 intronic transcript 1 [Gene - HGNC]
  • LOC126805747:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:64728314-64729513 [Gene]
  • LOC126805751:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68151855-68153054 [Gene]
  • LOC126805753:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68849743-68850942 [Gene]
  • LOC126805758:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:72750040-72751239 [Gene]
  • PDE4B-AS1:PDE4B antisense RNA 1 [Gene - HGNC]
  • ROR1-AS1:ROR1 antisense RNA 1 [Gene - HGNC]
  • SERBP1:SERPINE1 mRNA binding protein 1 [Gene - OMIM - HGNC]
  • SGIP1:SH3GL interacting endocytic adaptor 1 [Gene - OMIM - HGNC]
  • LOC122094846:Sharpr-MPRA regulatory region 10397 [Gene]
  • LOC121725028:Sharpr-MPRA regulatory region 11272 [Gene]
  • LOC112590818:Sharpr-MPRA regulatory region 12103 [Gene]
  • LOC122094847:Sharpr-MPRA regulatory region 12613 [Gene]
  • LOC121725029:Sharpr-MPRA regulatory region 12925 [Gene]
  • LOC122094843:Sharpr-MPRA regulatory region 13002 [Gene]
  • LOC122094848:Sharpr-MPRA regulatory region 15496 [Gene]
  • LOC112590817:Sharpr-MPRA regulatory region 2453 [Gene]
  • LOC112590819:Sharpr-MPRA regulatory region 3760 [Gene]
  • LOC122094851:Sharpr-MPRA regulatory region 5584 [Gene]
  • LOC122094844:Sharpr-MPRA regulatory region 5730 [Gene]
  • LOC122094850:Sharpr-MPRA regulatory region 6160 [Gene]
  • LOC122094845:Sharpr-MPRA regulatory region 6178 [Gene]
  • LOC122094849:Sharpr-MPRA regulatory region 6234 [Gene]
  • LOC112590816:Sharpr-MPRA regulatory region 6411 [Gene]
  • LOC112590820:Sharpr-MPRA regulatory region 8849 [Gene]
  • LOC121725030:Sharpr-MPRA regulatory region 9183 [Gene]
  • LOC120893141:Sharpr-MPRA regulatory region 9273 [Gene]
  • LOC122094853:Sharpr-MPRA regulatory region 9784 [Gene]
  • TNNI3K:TNNI3 interacting kinase [Gene - OMIM - HGNC]
  • WLS:Wnt ligand secretion mediator [Gene - OMIM - HGNC]
  • ZRANB2-AS1:ZRANB2 antisense RNA 1 [Gene - HGNC]
  • ZRANB2-DT:ZRANB2 divergent transcript [Gene - HGNC]
  • AK4:adenylate kinase 4 [Gene - OMIM - HGNC]
  • ANKRD13C:ankyrin repeat domain 13C [Gene - OMIM - HGNC]
  • CACHD1:cache domain containing 1 [Gene - OMIM - HGNC]
  • C1orf141:chromosome 1 open reading frame 141 [Gene - HGNC]
  • CRYZ:crystallin zeta [Gene - OMIM - HGNC]
  • CTH:cystathionine gamma-lyase [Gene - OMIM - HGNC]
  • DNAI4:dynein axonemal intermediate chain 4 [Gene - OMIM - HGNC]
  • DYNLT5:dynein light chain Tctex-type family member 5 [Gene - OMIM - HGNC]
  • FPGT:fucose-1-phosphate guanylyltransferase [Gene - OMIM - HGNC]
  • ERICH3:glutamate rich 3 [Gene - OMIM - HGNC]
  • GADD45A:growth arrest and DNA damage inducible alpha [Gene - OMIM - HGNC]
  • INSL5:insulin like 5 [Gene - OMIM - HGNC]
  • IL12RB2:interleukin 12 receptor subunit beta 2 [Gene - OMIM - HGNC]
  • IL23R:interleukin 23 receptor [Gene - OMIM - HGNC]
  • LEPROT:leptin receptor overlapping transcript [Gene - OMIM - HGNC]
  • LEPR:leptin receptor [Gene - OMIM - HGNC]
  • LRRC40:leucine rich repeat containing 40 [Gene - HGNC]
  • LRRC53:leucine rich repeat containing 53 [Gene - HGNC]
  • LRRC7:leucine rich repeat containing 7 [Gene - OMIM - HGNC]
  • LRRIQ3:leucine rich repeats and IQ motif containing 3 [Gene - OMIM - HGNC]
  • LINC01359:long intergenic non-protein coding RNA 1359 [Gene - HGNC]
  • LINC01360:long intergenic non-protein coding RNA 1360 [Gene - HGNC]
  • LINC01707:long intergenic non-protein coding RNA 1707 [Gene - HGNC]
  • LINC01758:long intergenic non-protein coding RNA 1758 [Gene - HGNC]
  • LINC01788:long intergenic non-protein coding RNA 1788 [Gene - HGNC]
  • LINC02238:long intergenic non-protein coding RNA 2238 [Gene - HGNC]
  • LINC02791:long intergenic non-protein coding RNA 2791 [Gene - HGNC]
  • LINC02796:long intergenic non-protein coding RNA 2796 [Gene - HGNC]
  • LINC03102:long intergenic non-protein coding RNA 3102 [Gene - HGNC]
  • MIR101-1:microRNA 101-1 [Gene - OMIM - HGNC]
  • MIR1262:microRNA 1262 [Gene - HGNC]
  • MIR186:microRNA 186 [Gene - HGNC]
  • MIR3117:microRNA 3117 [Gene - HGNC]
  • MIR3671:microRNA 3671 [Gene - HGNC]
  • MIR4794:microRNA 4794 [Gene - HGNC]
  • NEGR1:neuronal growth regulator 1 [Gene - OMIM - HGNC]
  • PDE4B:phosphodiesterase 4B [Gene - OMIM - HGNC]
  • PTGER3:prostaglandin E receptor 3 [Gene - OMIM - HGNC]
  • ROR1:receptor tyrosine kinase like orphan receptor 1 [Gene - OMIM - HGNC]
  • RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
  • RAVER2:ribonucleoprotein, PTB binding 2 [Gene - OMIM - HGNC]
  • SRSF11:serine and arginine rich splicing factor 11 [Gene - OMIM - HGNC]
  • SLC35D1:solute carrier family 35 member D1 [Gene - OMIM - HGNC]
  • SLC44A5:solute carrier family 44 member 5 [Gene - OMIM - HGNC]
  • TYW3:tRNA-yW synthesizing protein 3 homolog [Gene - OMIM - HGNC]
  • UBE2U:ubiquitin conjugating enzyme E2 U [Gene - HGNC]
  • LOC105378798:uncharacterized LOC105378798 [Gene]
  • ZRANB2:zinc finger RANBP2-type containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p31.3-31.1
Genomic location:
Preferred name:
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3
HGVS:
  • NC_000001.11:g.(?_64072618)_(75518432_?)dup
  • NC_000001.10:g.(?_64538290)_(75984117_?)dup
  • NC_000001.9:g.(?_64310878)_(75756705_?)dup
Links:
dbVar: nssv576338; dbVar: nssv576346; dbVar: nsv492264
Observations:
2

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
SCV000173663ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 19, 2010) 		unknownclinical 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
humannot providedyes1not 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, SCV000173663.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 13, 2024