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GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 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:
RCV000052777.5

Allele description [Variation Report for GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1]

GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1

Genes:
  • AKAP3:A-kinase anchoring protein 3 [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • 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]
  • CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
  • CACNA1C-AS2:CACNA1C antisense RNA 2 [Gene - HGNC]
  • CCND2-AS1:CCND2 antisense RNA 1 [Gene - HGNC]
  • LOC120807612:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 [Gene]
  • LOC116268426:CRISPRi-validated cis-regulatory element chr12.200 [Gene]
  • 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]
  • LOC126861417:MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 [Gene]
  • LOC129390386:MPRA-validated peak1537 silencer [Gene]
  • NDUFA9:NADH:ubiquinone oxidoreductase subunit A9 [Gene - OMIM - HGNC]
  • LOC126861422:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 [Gene]
  • PARP11-AS1:PARP11 antisense RNA 1 [Gene - HGNC]
  • RAD51AP1:RAD51 associated protein 1 [Gene - OMIM - HGNC]
  • RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
  • LOC113939935:Sharpr-MPRA regulatory region 10040 [Gene]
  • LOC121403743:Sharpr-MPRA regulatory region 10584 [Gene]
  • LOC124625887:Sharpr-MPRA regulatory region 12719 [Gene]
  • LOC121392956:Sharpr-MPRA regulatory region 13344 [Gene]
  • LOC124625889:Sharpr-MPRA regulatory region 13428 [Gene]
  • LOC124625885:Sharpr-MPRA regulatory region 1542 [Gene]
  • LOC112163552:Sharpr-MPRA regulatory region 2870 [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]
  • 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]
  • CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • CCND2:cyclin D2 [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]
  • LINC02371:long intergenic non-protein coding RNA 2371 [Gene - HGNC]
  • LINC02417:long intergenic non-protein coding RNA 2417 [Gene - HGNC]
  • LINC02827:long intergenic non-protein coding RNA 2827 [Gene - HGNC]
  • LOC107832852:meiotic recombination hotspot 12B [Gene]
  • 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]
  • KCNA6:potassium voltage-gated channel subfamily A member 6 [Gene - OMIM - HGNC]
  • PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
  • TEX52:testis expressed 52 [Gene - HGNC]
  • TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
  • THCAT155:thyroid cancer-associated transcript 155 [Gene]
  • LOC100128253:uncharacterized LOC100128253 [Gene]
Variant type:
copy number loss
Cytogenetic location:
12p13.33-13.32
Genomic location:
Preferred name:
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1
HGVS:
  • NC_000012.12:g.(?_2492728)_(4829842_?)del
  • NC_000012.10:g.(?_2472155)_(4809269_?)del
  • NC_000012.11:g.(?_2601894)_(4939008_?)del
Links:
dbVar: nssv577374; dbVar: nsv531494
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
SCV000080131ISCA site 4

See additional submitters

criteria provided, single submitter

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

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 ISCA site 4, SCV000080131.4

#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