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GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2013
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:
RCV000143357.6

Allele description [Variation Report for GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3]

GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3

Genes:
  • LOC108178986:12p13 distal LINE-mediated recombination region [Gene]
  • LOC108178987:12p13 proximal LINE-mediated recombination region [Gene]
  • AKAP3:A-kinase anchoring protein 3 [Gene - OMIM - HGNC]
  • LOC130007137:ATAC-STARR-seq lymphoblastoid active region 5779 [Gene]
  • LOC130007138:ATAC-STARR-seq lymphoblastoid active region 5780 [Gene]
  • LOC130007139:ATAC-STARR-seq lymphoblastoid active region 5781 [Gene]
  • LOC130007142:ATAC-STARR-seq lymphoblastoid active region 5782 [Gene]
  • LOC130007143:ATAC-STARR-seq lymphoblastoid active region 5783 [Gene]
  • LOC130007144:ATAC-STARR-seq lymphoblastoid active region 5784 [Gene]
  • LOC130007145:ATAC-STARR-seq lymphoblastoid active region 5785 [Gene]
  • LOC130007146:ATAC-STARR-seq lymphoblastoid active region 5786 [Gene]
  • LOC130007147:ATAC-STARR-seq lymphoblastoid active region 5787 [Gene]
  • LOC130007148:ATAC-STARR-seq lymphoblastoid active region 5788 [Gene]
  • LOC130007149:ATAC-STARR-seq lymphoblastoid active region 5789 [Gene]
  • LOC130007150:ATAC-STARR-seq lymphoblastoid active region 5790 [Gene]
  • LOC130007151:ATAC-STARR-seq lymphoblastoid active region 5791 [Gene]
  • LOC130007152:ATAC-STARR-seq lymphoblastoid active region 5792 [Gene]
  • LOC130007154:ATAC-STARR-seq lymphoblastoid active region 5795 [Gene]
  • LOC130007155:ATAC-STARR-seq lymphoblastoid active region 5796 [Gene]
  • LOC130007156:ATAC-STARR-seq lymphoblastoid active region 5797 [Gene]
  • LOC130007159:ATAC-STARR-seq lymphoblastoid active region 5798 [Gene]
  • LOC130007160:ATAC-STARR-seq lymphoblastoid active region 5799 [Gene]
  • LOC130007161:ATAC-STARR-seq lymphoblastoid active region 5800 [Gene]
  • LOC130007162:ATAC-STARR-seq lymphoblastoid active region 5801 [Gene]
  • LOC130007163:ATAC-STARR-seq lymphoblastoid active region 5802 [Gene]
  • LOC130007164:ATAC-STARR-seq lymphoblastoid active region 5803 [Gene]
  • LOC130007165:ATAC-STARR-seq lymphoblastoid active region 5804 [Gene]
  • LOC130007167:ATAC-STARR-seq lymphoblastoid active region 5805 [Gene]
  • LOC130007169:ATAC-STARR-seq lymphoblastoid active region 5808 [Gene]
  • LOC130007172:ATAC-STARR-seq lymphoblastoid active region 5809 [Gene]
  • LOC130007173:ATAC-STARR-seq lymphoblastoid active region 5810 [Gene]
  • LOC130007174:ATAC-STARR-seq lymphoblastoid active region 5811 [Gene]
  • LOC130007176:ATAC-STARR-seq lymphoblastoid active region 5812 [Gene]
  • LOC130007177:ATAC-STARR-seq lymphoblastoid active region 5813 [Gene]
  • LOC130007180:ATAC-STARR-seq lymphoblastoid active region 5814 [Gene]
  • LOC130007186:ATAC-STARR-seq lymphoblastoid active region 5816 [Gene]
  • LOC130007190:ATAC-STARR-seq lymphoblastoid active region 5817 [Gene]
  • LOC130007196:ATAC-STARR-seq lymphoblastoid active region 5818 [Gene]
  • LOC130007197:ATAC-STARR-seq lymphoblastoid active region 5819 [Gene]
  • LOC130007198:ATAC-STARR-seq lymphoblastoid active region 5820 [Gene]
  • LOC130007200:ATAC-STARR-seq lymphoblastoid active region 5822 [Gene]
  • LOC130007201:ATAC-STARR-seq lymphoblastoid active region 5823 [Gene]
  • LOC130007208:ATAC-STARR-seq lymphoblastoid active region 5824 [Gene]
  • LOC130007209:ATAC-STARR-seq lymphoblastoid active region 5825 [Gene]
  • LOC130007210:ATAC-STARR-seq lymphoblastoid active region 5826 [Gene]
  • LOC130007211:ATAC-STARR-seq lymphoblastoid active region 5827 [Gene]
  • LOC130007212:ATAC-STARR-seq lymphoblastoid active region 5828 [Gene]
  • LOC130007213:ATAC-STARR-seq lymphoblastoid active region 5830 [Gene]
  • LOC130007214:ATAC-STARR-seq lymphoblastoid active region 5831 [Gene]
  • LOC130007215:ATAC-STARR-seq lymphoblastoid active region 5832 [Gene]
  • LOC130007216:ATAC-STARR-seq lymphoblastoid active region 5833 [Gene]
  • LOC130007217:ATAC-STARR-seq lymphoblastoid active region 5834 [Gene]
  • LOC130007219:ATAC-STARR-seq lymphoblastoid active region 5835 [Gene]
  • LOC130007220:ATAC-STARR-seq lymphoblastoid active region 5836 [Gene]
  • LOC130007221:ATAC-STARR-seq lymphoblastoid active region 5837 [Gene]
  • LOC130007222:ATAC-STARR-seq lymphoblastoid active region 5838 [Gene]
  • LOC130007223:ATAC-STARR-seq lymphoblastoid active region 5839 [Gene]
  • LOC130007224:ATAC-STARR-seq lymphoblastoid active region 5840 [Gene]
  • LOC130007226:ATAC-STARR-seq lymphoblastoid active region 5842 [Gene]
  • LOC130007135:ATAC-STARR-seq lymphoblastoid silent region 4102 [Gene]
  • LOC130007136:ATAC-STARR-seq lymphoblastoid silent region 4103 [Gene]
  • LOC130007140:ATAC-STARR-seq lymphoblastoid silent region 4104 [Gene]
  • LOC130007141:ATAC-STARR-seq lymphoblastoid silent region 4105 [Gene]
  • LOC130007153:ATAC-STARR-seq lymphoblastoid silent region 4110 [Gene]
  • LOC130007157:ATAC-STARR-seq lymphoblastoid silent region 4112 [Gene]
  • LOC130007158:ATAC-STARR-seq lymphoblastoid silent region 4113 [Gene]
  • LOC130007166:ATAC-STARR-seq lymphoblastoid silent region 4115 [Gene]
  • LOC130007168:ATAC-STARR-seq lymphoblastoid silent region 4116 [Gene]
  • LOC130007170:ATAC-STARR-seq lymphoblastoid silent region 4118 [Gene]
  • LOC130007171:ATAC-STARR-seq lymphoblastoid silent region 4119 [Gene]
  • LOC130007175:ATAC-STARR-seq lymphoblastoid silent region 4122 [Gene]
  • LOC130007178:ATAC-STARR-seq lymphoblastoid silent region 4127 [Gene]
  • LOC130007179:ATAC-STARR-seq lymphoblastoid silent region 4128 [Gene]
  • LOC130007181:ATAC-STARR-seq lymphoblastoid silent region 4129 [Gene]
  • LOC130007182:ATAC-STARR-seq lymphoblastoid silent region 4131 [Gene]
  • LOC130007183:ATAC-STARR-seq lymphoblastoid silent region 4132 [Gene]
  • LOC130007184:ATAC-STARR-seq lymphoblastoid silent region 4134 [Gene]
  • LOC130007185:ATAC-STARR-seq lymphoblastoid silent region 4135 [Gene]
  • LOC130007187:ATAC-STARR-seq lymphoblastoid silent region 4136 [Gene]
  • LOC130007188:ATAC-STARR-seq lymphoblastoid silent region 4138 [Gene]
  • LOC130007189:ATAC-STARR-seq lymphoblastoid silent region 4139 [Gene]
  • LOC130007191:ATAC-STARR-seq lymphoblastoid silent region 4140 [Gene]
  • LOC130007192:ATAC-STARR-seq lymphoblastoid silent region 4141 [Gene]
  • LOC130007193:ATAC-STARR-seq lymphoblastoid silent region 4142 [Gene]
  • LOC130007194:ATAC-STARR-seq lymphoblastoid silent region 4143 [Gene]
  • LOC130007195:ATAC-STARR-seq lymphoblastoid silent region 4144 [Gene]
  • LOC130007199:ATAC-STARR-seq lymphoblastoid silent region 4146 [Gene]
  • LOC130007202:ATAC-STARR-seq lymphoblastoid silent region 4147 [Gene]
  • LOC130007203:ATAC-STARR-seq lymphoblastoid silent region 4148 [Gene]
  • LOC130007204:ATAC-STARR-seq lymphoblastoid silent region 4149 [Gene]
  • LOC130007205:ATAC-STARR-seq lymphoblastoid silent region 4150 [Gene]
  • LOC130007206:ATAC-STARR-seq lymphoblastoid silent region 4151 [Gene]
  • LOC130007207:ATAC-STARR-seq lymphoblastoid silent region 4152 [Gene]
  • LOC130007218:ATAC-STARR-seq lymphoblastoid silent region 4155 [Gene]
  • LOC130007225:ATAC-STARR-seq lymphoblastoid silent region 4156 [Gene]
  • LOC130007227:ATAC-STARR-seq lymphoblastoid silent region 4157 [Gene]
  • LOC126861414:BRD4-independent group 4 enhancer GRCh37_chr12:1597926-1599125 [Gene]
  • LOC126861418:BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 [Gene]
  • LOC126861419:BRD4-independent group 4 enhancer GRCh37_chr12:2905599-2906798 [Gene]
  • LOC126861420:BRD4-independent group 4 enhancer GRCh37_chr12:3421757-3422956 [Gene]
  • LOC126861421:BRD4-independent group 4 enhancer GRCh37_chr12:3443867-3445066 [Gene]
  • LOC126861424:BRD4-independent group 4 enhancer GRCh37_chr12:5015702-5016901 [Gene]
  • LOC126861426:BRD4-independent group 4 enhancer GRCh37_chr12:5282196-5283395 [Gene]
  • LOC126861429:BRD4-independent group 4 enhancer GRCh37_chr12:5629720-5630919 [Gene]
  • CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
  • CACNA1C-AS2:CACNA1C antisense RNA 2 [Gene - HGNC]
  • CACNA1C-AS4:CACNA1C antisense RNA 4 [Gene - HGNC]
  • CACNA1C-IT1:CACNA1C intronic transcript 1 [Gene - HGNC]
  • CACNA1C-IT2:CACNA1C intronic transcript 2 [Gene - HGNC]
  • CACNA1C-IT3:CACNA1C intronic transcript 3 [Gene - HGNC]
  • CCND2-AS1:CCND2 antisense RNA 1 [Gene - HGNC]
  • CD9:CD9 molecule [Gene - OMIM - HGNC]
  • LOC126861413:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765 [Gene]
  • LOC120807612:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 [Gene]
  • LOC126861428:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:5618629-5619828 [Gene]
  • LOC126861432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:6327115-6328314 [Gene]
  • LOC116268426:CRISPRi-validated cis-regulatory element chr12.200 [Gene]
  • LOC116268425:CRISPRi-validated cis-regulatory element chr12.51 [Gene]
  • ERC1:ELKS/RAB6-interacting/CAST family member 1 [Gene - OMIM - HGNC]
  • FBXL14:F-box and leucine rich repeat protein 14 [Gene - OMIM - HGNC]
  • FERRY3:FERRY endosomal RAB5 effector complex subunit 3 [Gene - OMIM - HGNC]
  • FKBP4:FKBP prolyl isomerase 4 [Gene - OMIM - HGNC]
  • GAU1:GALNT8 antisense upstream 1 [Gene - HGNC]
  • ITFG2-AS1:ITFG2 antisense RNA 1 [Gene - HGNC]
  • LOC126861415:MED14-independent group 3 enhancer GRCh37_chr12:1608954-1610153 [Gene]
  • LOC126861416:MED14-independent group 3 enhancer GRCh37_chr12:2063223-2064422 [Gene]
  • LOC126861417:MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 [Gene]
  • LOC126861425:MED14-independent group 3 enhancer GRCh37_chr12:5248742-5249941 [Gene]
  • LOC126861427:MED14-independent group 3 enhancer GRCh37_chr12:5497373-5498572 [Gene]
  • LOC126861411:MED14-independent group 3 enhancer GRCh37_chr12:754531-755730 [Gene]
  • LOC129390385:MPRA-validated peak1534 silencer [Gene]
  • LOC129390386:MPRA-validated peak1537 silencer [Gene]
  • LOC129390387:MPRA-validated peak1541 silencer [Gene]
  • LOC129390388:MPRA-validated peak1543 silencer [Gene]
  • NDUFA9:NADH:ubiquinone oxidoreductase subunit A9 [Gene - OMIM - HGNC]
  • NINJ2-AS1:NINJ2 antisense RNA 1 [Gene - HGNC]
  • LOC126861412:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 [Gene]
  • LOC126861422:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 [Gene]
  • LOC126861423:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5008995-5010194 [Gene]
  • LOC126861430:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5916007-5917206 [Gene]
  • LOC126861431:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:6040249-6041448 [Gene]
  • PARP11-AS1:PARP11 antisense RNA 1 [Gene - HGNC]
  • RAD51AP1:RAD51 associated protein 1 [Gene - OMIM - HGNC]
  • RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]
  • RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
  • LOC113939935:Sharpr-MPRA regulatory region 10040 [Gene]
  • LOC124625880:Sharpr-MPRA regulatory region 10568 [Gene]
  • LOC121403743:Sharpr-MPRA regulatory region 10584 [Gene]
  • LOC112163622:Sharpr-MPRA regulatory region 10655 [Gene]
  • LOC124625887:Sharpr-MPRA regulatory region 12719 [Gene]
  • LOC121392956:Sharpr-MPRA regulatory region 13344 [Gene]
  • LOC124625889:Sharpr-MPRA regulatory region 13428 [Gene]
  • LOC112163621:Sharpr-MPRA regulatory region 14257 [Gene]
  • LOC124625885:Sharpr-MPRA regulatory region 1542 [Gene]
  • LOC124625892:Sharpr-MPRA regulatory region 15487 [Gene]
  • LOC121403744:Sharpr-MPRA regulatory region 168 [Gene]
  • LOC124625876:Sharpr-MPRA regulatory region 2537 [Gene]
  • LOC112163552:Sharpr-MPRA regulatory region 2870 [Gene]
  • LOC124625879:Sharpr-MPRA regulatory region 2999 [Gene]
  • LOC112163620:Sharpr-MPRA regulatory region 3083 [Gene]
  • LOC124625895:Sharpr-MPRA regulatory region 3368 [Gene]
  • LOC124625878:Sharpr-MPRA regulatory region 3814 [Gene]
  • LOC112136100:Sharpr-MPRA regulatory region 5038 [Gene]
  • LOC124625881:Sharpr-MPRA regulatory region 515 [Gene]
  • LOC124625877:Sharpr-MPRA regulatory region 6010 [Gene]
  • LOC124625893:Sharpr-MPRA regulatory region 6202 [Gene]
  • LOC121392955:Sharpr-MPRA regulatory region 6322 [Gene]
  • LOC121832825:Sharpr-MPRA regulatory region 6988 [Gene]
  • LOC124625883:Sharpr-MPRA regulatory region 7040 [Gene]
  • LOC124625884:Sharpr-MPRA regulatory region 741 [Gene]
  • LOC121832826:Sharpr-MPRA regulatory region 7545 [Gene]
  • LOC124625882:Sharpr-MPRA regulatory region 8339 [Gene]
  • LOC124625886:Sharpr-MPRA regulatory region 8601 [Gene]
  • LOC124625890:Sharpr-MPRA regulatory region 8722 [Gene]
  • TEAD4:TEA domain transcription factor 4 [Gene - OMIM - HGNC]
  • TIGAR:TP53 induced glycolysis regulatory phosphatase [Gene - OMIM - HGNC]
  • TSPAN9-IT1:TSPAN9 intronic transcript 1 [Gene - HGNC]
  • TULP3:TUB like protein 3 [Gene - OMIM - HGNC]
  • WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
  • WNT5B:Wnt family member 5B [Gene - OMIM - HGNC]
  • ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
  • ANO2:anoctamin 2 [Gene - OMIM - HGNC]
  • B4GALNT3:beta-1,4-N-acetyl-galactosaminyltransferase 3 [Gene - OMIM - HGNC]
  • CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
  • CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • CCDC77:coiled-coil domain containing 77 [Gene - HGNC]
  • CCND2:cyclin D2 [Gene - OMIM - HGNC]
  • DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
  • DYRK4:dual specificity tyrosine phosphorylation regulated kinase 4 [Gene - OMIM - HGNC]
  • FGF23:fibroblast growth factor 23 [Gene - OMIM - HGNC]
  • FGF6:fibroblast growth factor 6 [Gene - OMIM - HGNC]
  • FOXM1:forkhead box M1 [Gene - OMIM - HGNC]
  • ITFG2:integrin alpha FG-GAP repeat containing 2 [Gene - OMIM - HGNC]
  • LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
  • LINC02371:long intergenic non-protein coding RNA 2371 [Gene - HGNC]
  • LINC02417:long intergenic non-protein coding RNA 2417 [Gene - HGNC]
  • LINC02443:long intergenic non-protein coding RNA 2443 [Gene - HGNC]
  • LINC02455:long intergenic non-protein coding RNA 2455 [Gene - HGNC]
  • LINC02827:long intergenic non-protein coding RNA 2827 [Gene - HGNC]
  • LINC00940:long intergenic non-protein coding RNA 940 [Gene - HGNC]
  • LINC00942:long intergenic non-protein coding RNA 942 [Gene - HGNC]
  • LOC107832852:meiotic recombination hotspot 12B [Gene]
  • LOC107832854:meiotic recombination hotspot 12D [Gene]
  • LOC107436002:meiotic recombination hotspot F [Gene]
  • MIR3649:microRNA 3649 [Gene - HGNC]
  • NTF3:neurotrophin 3 [Gene - OMIM - HGNC]
  • NINJ2:ninjurin 2 [Gene - OMIM - HGNC]
  • NRIP2:nuclear receptor interacting protein 2 [Gene - HGNC]
  • PARP11:poly(ADP-ribose) polymerase family member 11 [Gene - OMIM - HGNC]
  • GALNT8:polypeptide N-acetylgalactosaminyltransferase 8 [Gene - OMIM - HGNC]
  • KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
  • KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
  • KCNA6:potassium voltage-gated channel subfamily A member 6 [Gene - OMIM - HGNC]
  • PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
  • SNORA120:small nucleolar RNA, H/ACA box 120 [Gene - HGNC]
  • TEX52:testis expressed 52 [Gene - HGNC]
  • TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
  • THCAT155:thyroid cancer-associated transcript 155 [Gene]
  • LOC100128253:uncharacterized LOC100128253 [Gene]
  • LOC100507560:uncharacterized LOC100507560 [Gene]
  • LOC105369595:uncharacterized LOC105369595 [Gene]
  • LOC105369617:uncharacterized LOC105369617 [Gene]
  • LOC107984507:uncharacterized LOC107984507 [Gene]
  • VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p13.33-13.31
Genomic location:
Preferred name:
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3
HGVS:
  • NC_000012.12:g.(?_418421)_(6235914_?)dup
  • NC_000012.11:g.(?_527587)_(6345080_?)dup
Links:
dbVar: nssv3396698; dbVar: nsv995152
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
SCV000182569ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Apr 16, 2013) 		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

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, SCV000182569.4

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

Last Updated: May 7, 2024