GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 30, 2011
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000141435.4
Allele description [Variation Report for GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3]
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3
- Genes:
- LOC130007985:ATAC-STARR-seq lymphoblastoid active region 6422 [Gene]
- LOC130007991:ATAC-STARR-seq lymphoblastoid active region 6423 [Gene]
- LOC130007993:ATAC-STARR-seq lymphoblastoid active region 6424 [Gene]
- LOC130007994:ATAC-STARR-seq lymphoblastoid active region 6425 [Gene]
- LOC130007995:ATAC-STARR-seq lymphoblastoid active region 6426 [Gene]
- LOC130007996:ATAC-STARR-seq lymphoblastoid active region 6427 [Gene]
- LOC130007997:ATAC-STARR-seq lymphoblastoid active region 6428 [Gene]
- LOC130008000:ATAC-STARR-seq lymphoblastoid active region 6429 [Gene]
- LOC130008001:ATAC-STARR-seq lymphoblastoid active region 6430 [Gene]
- LOC130008003:ATAC-STARR-seq lymphoblastoid active region 6431 [Gene]
- LOC130008006:ATAC-STARR-seq lymphoblastoid active region 6433 [Gene]
- LOC130008008:ATAC-STARR-seq lymphoblastoid active region 6435 [Gene]
- LOC130008010:ATAC-STARR-seq lymphoblastoid active region 6436 [Gene]
- LOC130008012:ATAC-STARR-seq lymphoblastoid active region 6441 [Gene]
- LOC130008015:ATAC-STARR-seq lymphoblastoid active region 6443 [Gene]
- LOC130008016:ATAC-STARR-seq lymphoblastoid active region 6444 [Gene]
- LOC130008017:ATAC-STARR-seq lymphoblastoid active region 6445 [Gene]
- LOC130008020:ATAC-STARR-seq lymphoblastoid active region 6446 [Gene]
- LOC130008021:ATAC-STARR-seq lymphoblastoid active region 6447 [Gene]
- LOC130008022:ATAC-STARR-seq lymphoblastoid active region 6448 [Gene]
- LOC130008024:ATAC-STARR-seq lymphoblastoid active region 6449 [Gene]
- LOC130008025:ATAC-STARR-seq lymphoblastoid active region 6450 [Gene]
- LOC130008026:ATAC-STARR-seq lymphoblastoid active region 6451 [Gene]
- LOC130008027:ATAC-STARR-seq lymphoblastoid active region 6453 [Gene]
- LOC130008029:ATAC-STARR-seq lymphoblastoid active region 6454 [Gene]
- LOC130008030:ATAC-STARR-seq lymphoblastoid active region 6455 [Gene]
- LOC130008031:ATAC-STARR-seq lymphoblastoid active region 6456 [Gene]
- LOC130008032:ATAC-STARR-seq lymphoblastoid active region 6457 [Gene]
- LOC130008033:ATAC-STARR-seq lymphoblastoid active region 6458 [Gene]
- LOC130008035:ATAC-STARR-seq lymphoblastoid active region 6459 [Gene]
- LOC130008038:ATAC-STARR-seq lymphoblastoid active region 6460 [Gene]
- LOC130008040:ATAC-STARR-seq lymphoblastoid active region 6464 [Gene]
- LOC130008041:ATAC-STARR-seq lymphoblastoid active region 6465 [Gene]
- LOC130008044:ATAC-STARR-seq lymphoblastoid active region 6468 [Gene]
- LOC130008045:ATAC-STARR-seq lymphoblastoid active region 6469 [Gene]
- LOC130008046:ATAC-STARR-seq lymphoblastoid active region 6470 [Gene]
- LOC130008047:ATAC-STARR-seq lymphoblastoid active region 6471 [Gene]
- LOC130008049:ATAC-STARR-seq lymphoblastoid active region 6472 [Gene]
- LOC130008050:ATAC-STARR-seq lymphoblastoid active region 6474 [Gene]
- LOC130008051:ATAC-STARR-seq lymphoblastoid active region 6475 [Gene]
- LOC130008052:ATAC-STARR-seq lymphoblastoid active region 6476 [Gene]
- LOC130008053:ATAC-STARR-seq lymphoblastoid active region 6477 [Gene]
- LOC130008056:ATAC-STARR-seq lymphoblastoid active region 6478 [Gene]
- LOC130008057:ATAC-STARR-seq lymphoblastoid active region 6479 [Gene]
- LOC130008060:ATAC-STARR-seq lymphoblastoid active region 6480 [Gene]
- LOC130007984:ATAC-STARR-seq lymphoblastoid silent region 4510 [Gene]
- LOC130007986:ATAC-STARR-seq lymphoblastoid silent region 4511 [Gene]
- LOC130007987:ATAC-STARR-seq lymphoblastoid silent region 4512 [Gene]
- LOC130007988:ATAC-STARR-seq lymphoblastoid silent region 4513 [Gene]
- LOC130007989:ATAC-STARR-seq lymphoblastoid silent region 4514 [Gene]
- LOC130007990:ATAC-STARR-seq lymphoblastoid silent region 4515 [Gene]
- LOC130007992:ATAC-STARR-seq lymphoblastoid silent region 4516 [Gene]
- LOC130007998:ATAC-STARR-seq lymphoblastoid silent region 4517 [Gene]
- LOC130007999:ATAC-STARR-seq lymphoblastoid silent region 4518 [Gene]
- LOC130008002:ATAC-STARR-seq lymphoblastoid silent region 4520 [Gene]
- LOC130008004:ATAC-STARR-seq lymphoblastoid silent region 4521 [Gene]
- LOC130008005:ATAC-STARR-seq lymphoblastoid silent region 4522 [Gene]
- LOC130008007:ATAC-STARR-seq lymphoblastoid silent region 4523 [Gene]
- LOC130008009:ATAC-STARR-seq lymphoblastoid silent region 4524 [Gene]
- LOC130008011:ATAC-STARR-seq lymphoblastoid silent region 4527 [Gene]
- LOC130008013:ATAC-STARR-seq lymphoblastoid silent region 4528 [Gene]
- LOC130008014:ATAC-STARR-seq lymphoblastoid silent region 4529 [Gene]
- LOC130008018:ATAC-STARR-seq lymphoblastoid silent region 4531 [Gene]
- LOC130008019:ATAC-STARR-seq lymphoblastoid silent region 4532 [Gene]
- LOC130008023:ATAC-STARR-seq lymphoblastoid silent region 4533 [Gene]
- LOC130008028:ATAC-STARR-seq lymphoblastoid silent region 4534 [Gene]
- LOC130008034:ATAC-STARR-seq lymphoblastoid silent region 4535 [Gene]
- LOC130008036:ATAC-STARR-seq lymphoblastoid silent region 4537 [Gene]
- LOC130008037:ATAC-STARR-seq lymphoblastoid silent region 4538 [Gene]
- LOC130008039:ATAC-STARR-seq lymphoblastoid silent region 4539 [Gene]
- LOC130008042:ATAC-STARR-seq lymphoblastoid silent region 4541 [Gene]
- LOC130008043:ATAC-STARR-seq lymphoblastoid silent region 4542 [Gene]
- LOC130008048:ATAC-STARR-seq lymphoblastoid silent region 4544 [Gene]
- LOC130008054:ATAC-STARR-seq lymphoblastoid silent region 4546 [Gene]
- LOC130008055:ATAC-STARR-seq lymphoblastoid silent region 4547 [Gene]
- LOC130008058:ATAC-STARR-seq lymphoblastoid silent region 4548 [Gene]
- LOC130008059:ATAC-STARR-seq lymphoblastoid silent region 4549 [Gene]
- ATF7-NPFF:ATF7-NPFF readthrough [Gene - HGNC]
- ATP5MC2:ATP synthase membrane subunit c locus 2 [Gene - OMIM - HGNC]
- BLOC1S1-RDH5:BLOC1S1-RDH5 readthrough [Gene]
- LOC126861531:BRD4-independent group 4 enhancer GRCh37_chr12:54242057-54243256 [Gene]
- LOC126861536:BRD4-independent group 4 enhancer GRCh37_chr12:56536437-56537636 [Gene]
- LOC108281184:CALCOCO1-CISTR intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
- CD63-AS1:CD63 antisense RNA 1 [Gene - HGNC]
- CD63:CD63 molecule [Gene - OMIM - HGNC]
- LOC126861530:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:54118812-54120011 [Gene]
- LOC126861535:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 [Gene]
- COPZ1:COPI coat complex subunit zeta 1 [Gene - OMIM - HGNC]
- LOC117038779:CRISPRi-FlowFISH-validated COPZ1 and HNRNPA1 regulatory element [Gene]
- LOC117038781:CRISPRi-FlowFISH-validated COPZ1, HNRNPA1 and NFE2 regulatory element [Gene]
- LOC117038780:CRISPRi-FlowFISH-validated HNRNPA1 and NFE2 regulatory element 1 [Gene]
- LOC117038782:CRISPRi-FlowFISH-validated HNRNPA1 and NFE2 regulatory element 2 [Gene]
- LOC117038778:CRISPRi-FlowFISH-validated HNRNPA1 regulatory element [Gene]
- LOC117038775:CRISPRi-FlowFISH-validated NFE2 regulatory element 1 [Gene]
- LOC117038776:CRISPRi-FlowFISH-validated NFE2 regulatory element 2 [Gene]
- LOC116268440:CRISPRi-validated cis-regulatory element chr12.1897 [Gene]
- LOC116268441:CRISPRi-validated cis-regulatory element chr12.2135 [Gene]
- DNAJC14:DnaJ heat shock protein family (Hsp40) member C14 [Gene - OMIM - HGNC]
- GPR84:G protein-coupled receptor 84 [Gene - OMIM - HGNC]
- GPR84-AS1:GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 [Gene - HGNC]
- HOTAIR:HOX transcript antisense RNA [Gene - OMIM - HGNC]
- HOXC-AS1:HOXC cluster antisense RNA 1 [Gene - HGNC]
- HOXC-AS2:HOXC cluster antisense RNA 2 [Gene - HGNC]
- HOXC-AS3:HOXC cluster antisense RNA 3 [Gene - HGNC]
- LOC108228199:HOXC11-HOXC10 intergenic CAGE-defined high expression enhancer [Gene]
- HOXC13-AS:HOXC13 antisense RNA [Gene - HGNC]
- IKZF4:IKAROS family zinc finger 4 [Gene - OMIM - HGNC]
- LOC126861532:MED14-independent group 3 enhancer GRCh37_chr12:54261991-54263190 [Gene]
- LOC126861533:MED14-independent group 3 enhancer GRCh37_chr12:55328775-55329974 [Gene]
- LOC126861534:MED14-independent group 3 enhancer GRCh37_chr12:55565945-55567144 [Gene]
- LOC129390460:MPRA-validated peak1736 silencer [Gene]
- LOC129390461:MPRA-validated peak1738 silencer [Gene]
- LOC129390462:MPRA-validated peak1739 silencer [Gene]
- MYL6B-AS1:MYL6B antisense RNA 1 [Gene - HGNC]
- NCKAP1L:NCK associated protein 1 like [Gene - OMIM - HGNC]
- LOC107105350:NUP98-HOXC11 recombination region [Gene]
- LOC132090118:Neanderthal introgressed variant-containing enhancer experimental_29403 [Gene]
- LOC132090119:Neanderthal introgressed variant-containing enhancer experimental_29460 [Gene]
- LOC132090120:Neanderthal introgressed variant-containing enhancer experimental_29464 [Gene]
- LOC132090121:Neanderthal introgressed variant-containing enhancer experimental_29528 [Gene]
- ORMDL2:ORMDL sphingolipid biosynthesis regulator 2 [Gene - OMIM - HGNC]
- PCBP2-OT1:PCBP2 overlapping transcript 1 [Gene - HGNC]
- PYM1:PYM homolog 1, exon junction complex associated factor [Gene - OMIM - HGNC]
- RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
- SCAT2:S-phase cancer associated transcript 2 [Gene - HGNC]
- SARNP:SAP domain containing ribonucleoprotein [Gene - OMIM - HGNC]
- SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
- LOC124629366:Sharpr-MPRA regulatory region 1043 [Gene]
- LOC112163612:Sharpr-MPRA regulatory region 1237 [Gene]
- LOC121832835:Sharpr-MPRA regulatory region 12722 [Gene]
- LOC124629368:Sharpr-MPRA regulatory region 1856 [Gene]
- LOC124629369:Sharpr-MPRA regulatory region 1888 [Gene]
- LOC124629367:Sharpr-MPRA regulatory region 2395 [Gene]
- LOC124629372:Sharpr-MPRA regulatory region 2650 [Gene]
- LOC112163609:Sharpr-MPRA regulatory region 3466 [Gene]
- LOC124629370:Sharpr-MPRA regulatory region 444 [Gene]
- LOC121466702:Sharpr-MPRA regulatory region 5451 [Gene]
- LOC121466701:Sharpr-MPRA regulatory region 7415 [Gene]
- TARBP2:TARBP2 subunit of RISC loading complex [Gene - OMIM - HGNC]
- LOC110121456:VISTA enhancer hs1875 [Gene]
- LOC110121480:VISTA enhancer hs2078 [Gene]
- LOC114827865:VISTA enhancer hs2573 [Gene]
- ATF7:activating transcription factor 7 [Gene - OMIM - HGNC]
- AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]
- BLOC1S1:biogenesis of lysosomal organelles complex 1 subunit 1 [Gene - OMIM - HGNC]
- CALCOCO1:calcium binding and coiled-coil domain 1 [Gene - HGNC]
- CISTR:chondrogenesis-associated transcript [Gene - HGNC]
- CBX5:chromobox 5 [Gene - OMIM - HGNC]
- CDK2:cyclin dependent kinase 2 [Gene - OMIM - HGNC]
- DCD:dermcidin [Gene - OMIM - HGNC]
- DGKA:diacylglycerol kinase alpha [Gene - OMIM - HGNC]
- ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
- ESYT1:extended synaptotagmin 1 [Gene - OMIM - HGNC]
- FAM242C:family with sequence similarity 242 member C [Gene - HGNC]
- GTSF1:gametocyte specific factor 1 [Gene - OMIM - HGNC]
- GDF11:growth differentiation factor 11 [Gene - OMIM - HGNC]
- HNRNPA1:heterogeneous nuclear ribonucleoprotein A1 [Gene - OMIM - HGNC]
- HOXC10:homeobox C10 [Gene - OMIM - HGNC]
- HOXC11:homeobox C11 [Gene - OMIM - HGNC]
- HOXC12:homeobox C12 [Gene - OMIM - HGNC]
- HOXC13:homeobox C13 [Gene - OMIM - HGNC]
- HOXC4:homeobox C4 [Gene - OMIM - HGNC]
- HOXC5:homeobox C5 [Gene - OMIM - HGNC]
- HOXC6:homeobox C6 [Gene - OMIM - HGNC]
- HOXC8:homeobox C8 [Gene - OMIM - HGNC]
- HOXC9:homeobox C9 [Gene - OMIM - HGNC]
- ITGA5:integrin subunit alpha 5 [Gene - OMIM - HGNC]
- ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]
- LACRT:lacritin [Gene - OMIM - HGNC]
- LINC02381:long intergenic non-protein coding RNA 2381 [Gene - HGNC]
- MMP19:matrix metallopeptidase 19 [Gene - OMIM - HGNC]
- MIR148B:microRNA 148b [Gene - OMIM - HGNC]
- MIR196A2:microRNA 196a-2 [Gene - OMIM - HGNC]
- MIR3198-2:microRNA 3198-2 [Gene - HGNC]
- MIR615:microRNA 615 [Gene - HGNC]
- MAP3K12:mitogen-activated protein kinase kinase kinase 12 [Gene - OMIM - HGNC]
- MUCL1:mucin like 1 [Gene - OMIM - HGNC]
- MYL6:myosin light chain 6 [Gene - OMIM - HGNC]
- MYL6B:myosin light chain 6B [Gene - OMIM - HGNC]
- NEUROD4:neuronal differentiation 4 [Gene - OMIM - HGNC]
- NPFF:neuropeptide FF-amide peptide precursor [Gene - OMIM - HGNC]
- NFE2:nuclear factor, erythroid 2 [Gene - OMIM - HGNC]
- OR10A7:olfactory receptor family 10 subfamily A member 7 [Gene - HGNC]
- OR10P1:olfactory receptor family 10 subfamily P member 1 [Gene - HGNC]
- OR2AP1:olfactory receptor family 2 subfamily AP member 1 [Gene - HGNC]
- OR6C1:olfactory receptor family 6 subfamily C member 1 [Gene - HGNC]
- OR6C2:olfactory receptor family 6 subfamily C member 2 [Gene - HGNC]
- OR6C3:olfactory receptor family 6 subfamily C member 3 [Gene - HGNC]
- OR6C4:olfactory receptor family 6 subfamily C member 4 [Gene - HGNC]
- OR6C65:olfactory receptor family 6 subfamily C member 65 [Gene - HGNC]
- OR6C68:olfactory receptor family 6 subfamily C member 68 [Gene - HGNC]
- OR6C6:olfactory receptor family 6 subfamily C member 6 [Gene - HGNC]
- OR6C70:olfactory receptor family 6 subfamily C member 70 [Gene - HGNC]
- OR6C74:olfactory receptor family 6 subfamily C member 74 [Gene - HGNC]
- OR6C75:olfactory receptor family 6 subfamily C member 75 [Gene - HGNC]
- OR6C76:olfactory receptor family 6 subfamily C member 76 [Gene - HGNC]
- OR9K2:olfactory receptor family 9 subfamily K member 2 [Gene - HGNC]
- PDE1B:phosphodiesterase 1B [Gene - OMIM - HGNC]
- PCBP2:poly(rC) binding protein 2 [Gene - OMIM - HGNC]
- PMEL:premelanosome protein [Gene - OMIM - HGNC]
- PA2G4:proliferation-associated 2G4 [Gene - OMIM - HGNC]
- PRR13:proline rich 13 [Gene - OMIM - HGNC]
- PPP1R1A:protein phosphatase 1 regulatory inhibitor subunit 1A [Gene - OMIM - HGNC]
- RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]
- RPL41:ribosomal protein L41 [Gene - OMIM - HGNC]
- RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
- RNF41:ring finger protein 41 [Gene - OMIM - HGNC]
- SMUG1:single-strand-selective monofunctional uracil-DNA glycosylase 1 [Gene - OMIM - HGNC]
- SUOX:sulfite oxidase [Gene - OMIM - HGNC]
- TRS-CGA4-1:tRNA-Ser (anticodon CGA) 4-1 [Gene - HGNC]
- TMT1B:thiol methyltransferase 1B [Gene - HGNC]
- TESPA1:thymocyte expressed, positive selection associated 1 [Gene - OMIM - HGNC]
- LOC100240734:uncharacterized LOC100240734 [Gene]
- LOC100240735:uncharacterized LOC100240735 [Gene]
- LOC100652999:uncharacterized LOC100652999 [Gene]
- LOC102724030:uncharacterized LOC102724030 [Gene]
- LOC105369781:uncharacterized LOC105369781 [Gene]
- LOC105378250:uncharacterized LOC105378250 [Gene]
- FLJ12825:uncharacterized LOC440101 [Gene]
- ZC3H10:zinc finger CCCH-type containing 10 [Gene - HGNC]
- ZNF385A:zinc finger protein 385A [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 12q13.13-13.3
- Genomic location:
- Preferred name:
- GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3
- HGVS:
- NC_000012.12:g.(?_53420606)_(56202942_?)dup
- NC_000012.11:g.(?_53814390)_(56596726_?)dup
This HGVS expression did not pass validation- Links:
- dbVar: nssv3396604; dbVar: nsv993550
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000182350 | GeneDx | no assertion criteria provided | Pathogenic (Apr 30, 2011) | not provided | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000182350.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: Oct 28, 2023