U.S. flag

An official website of the United States government

GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000138626.5

Allele description [Variation Report for GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1]

GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1

Genes:
  • ADAMTS20:ADAM metallopeptidase with thrombospondin type 1 motif 20 [Gene - OMIM - HGNC]
  • ARID2:AT-rich interaction domain 2 [Gene - OMIM - HGNC]
  • LOC130007690:ATAC-STARR-seq lymphoblastoid active region 6208 [Gene]
  • LOC130007694:ATAC-STARR-seq lymphoblastoid active region 6209 [Gene]
  • LOC130007698:ATAC-STARR-seq lymphoblastoid active region 6210 [Gene]
  • LOC130007699:ATAC-STARR-seq lymphoblastoid active region 6211 [Gene]
  • LOC130007700:ATAC-STARR-seq lymphoblastoid active region 6212 [Gene]
  • LOC130007701:ATAC-STARR-seq lymphoblastoid active region 6213 [Gene]
  • LOC130007702:ATAC-STARR-seq lymphoblastoid active region 6214 [Gene]
  • LOC130007703:ATAC-STARR-seq lymphoblastoid active region 6215 [Gene]
  • LOC130007705:ATAC-STARR-seq lymphoblastoid active region 6216 [Gene]
  • LOC130007711:ATAC-STARR-seq lymphoblastoid active region 6217 [Gene]
  • LOC130007712:ATAC-STARR-seq lymphoblastoid active region 6218 [Gene]
  • LOC130007713:ATAC-STARR-seq lymphoblastoid active region 6219 [Gene]
  • LOC130007717:ATAC-STARR-seq lymphoblastoid active region 6220 [Gene]
  • LOC130007718:ATAC-STARR-seq lymphoblastoid active region 6221 [Gene]
  • LOC130007719:ATAC-STARR-seq lymphoblastoid active region 6222 [Gene]
  • LOC130007720:ATAC-STARR-seq lymphoblastoid active region 6223 [Gene]
  • LOC130007721:ATAC-STARR-seq lymphoblastoid active region 6224 [Gene]
  • LOC130007722:ATAC-STARR-seq lymphoblastoid active region 6225 [Gene]
  • LOC130007723:ATAC-STARR-seq lymphoblastoid active region 6226 [Gene]
  • LOC130007725:ATAC-STARR-seq lymphoblastoid active region 6227 [Gene]
  • LOC130007731:ATAC-STARR-seq lymphoblastoid active region 6229 [Gene]
  • LOC130007733:ATAC-STARR-seq lymphoblastoid active region 6233 [Gene]
  • LOC130007734:ATAC-STARR-seq lymphoblastoid active region 6235 [Gene]
  • LOC130007735:ATAC-STARR-seq lymphoblastoid active region 6236 [Gene]
  • LOC130007736:ATAC-STARR-seq lymphoblastoid active region 6237 [Gene]
  • LOC130007737:ATAC-STARR-seq lymphoblastoid active region 6238 [Gene]
  • LOC130007738:ATAC-STARR-seq lymphoblastoid active region 6239 [Gene]
  • LOC130007739:ATAC-STARR-seq lymphoblastoid active region 6240 [Gene]
  • LOC130007740:ATAC-STARR-seq lymphoblastoid active region 6241 [Gene]
  • LOC130007742:ATAC-STARR-seq lymphoblastoid active region 6242 [Gene]
  • LOC130007744:ATAC-STARR-seq lymphoblastoid active region 6245 [Gene]
  • LOC130007746:ATAC-STARR-seq lymphoblastoid active region 6248 [Gene]
  • LOC130007749:ATAC-STARR-seq lymphoblastoid active region 6249 [Gene]
  • LOC130007750:ATAC-STARR-seq lymphoblastoid active region 6250 [Gene]
  • LOC130007751:ATAC-STARR-seq lymphoblastoid active region 6251 [Gene]
  • LOC130007752:ATAC-STARR-seq lymphoblastoid active region 6252 [Gene]
  • LOC130007753:ATAC-STARR-seq lymphoblastoid active region 6253 [Gene]
  • LOC130007691:ATAC-STARR-seq lymphoblastoid silent region 4356 [Gene]
  • LOC130007692:ATAC-STARR-seq lymphoblastoid silent region 4357 [Gene]
  • LOC130007693:ATAC-STARR-seq lymphoblastoid silent region 4358 [Gene]
  • LOC130007695:ATAC-STARR-seq lymphoblastoid silent region 4361 [Gene]
  • LOC130007696:ATAC-STARR-seq lymphoblastoid silent region 4362 [Gene]
  • LOC130007697:ATAC-STARR-seq lymphoblastoid silent region 4363 [Gene]
  • LOC130007704:ATAC-STARR-seq lymphoblastoid silent region 4364 [Gene]
  • LOC130007706:ATAC-STARR-seq lymphoblastoid silent region 4365 [Gene]
  • LOC130007707:ATAC-STARR-seq lymphoblastoid silent region 4366 [Gene]
  • LOC130007708:ATAC-STARR-seq lymphoblastoid silent region 4367 [Gene]
  • LOC130007709:ATAC-STARR-seq lymphoblastoid silent region 4368 [Gene]
  • LOC130007710:ATAC-STARR-seq lymphoblastoid silent region 4369 [Gene]
  • LOC130007714:ATAC-STARR-seq lymphoblastoid silent region 4370 [Gene]
  • LOC130007715:ATAC-STARR-seq lymphoblastoid silent region 4371 [Gene]
  • LOC130007716:ATAC-STARR-seq lymphoblastoid silent region 4372 [Gene]
  • LOC130007724:ATAC-STARR-seq lymphoblastoid silent region 4373 [Gene]
  • LOC130007726:ATAC-STARR-seq lymphoblastoid silent region 4374 [Gene]
  • LOC130007727:ATAC-STARR-seq lymphoblastoid silent region 4375 [Gene]
  • LOC130007728:ATAC-STARR-seq lymphoblastoid silent region 4376 [Gene]
  • LOC130007729:ATAC-STARR-seq lymphoblastoid silent region 4377 [Gene]
  • LOC130007730:ATAC-STARR-seq lymphoblastoid silent region 4378 [Gene]
  • LOC130007732:ATAC-STARR-seq lymphoblastoid silent region 4379 [Gene]
  • LOC130007741:ATAC-STARR-seq lymphoblastoid silent region 4381 [Gene]
  • LOC130007743:ATAC-STARR-seq lymphoblastoid silent region 4383 [Gene]
  • LOC130007745:ATAC-STARR-seq lymphoblastoid silent region 4385 [Gene]
  • LOC130007747:ATAC-STARR-seq lymphoblastoid silent region 4387 [Gene]
  • LOC130007748:ATAC-STARR-seq lymphoblastoid silent region 4388 [Gene]
  • LOC126861507:BRD4-independent group 4 enhancer GRCh37_chr12:41673681-41674880 [Gene]
  • LOC126861509:BRD4-independent group 4 enhancer GRCh37_chr12:42858567-42859766 [Gene]
  • LOC126861511:BRD4-independent group 4 enhancer GRCh37_chr12:44318495-44319694 [Gene]
  • LOC126861514:BRD4-independent group 4 enhancer GRCh37_chr12:46478170-46479369 [Gene]
  • DBX2-AS1:DBX2 antisense RNA 1 [Gene - HGNC]
  • LOC126861508:MED14-independent group 3 enhancer GRCh37_chr12:41686587-41687786 [Gene]
  • LOC126861512:MED14-independent group 3 enhancer GRCh37_chr12:44422790-44423989 [Gene]
  • LOC126861513:MED14-independent group 3 enhancer GRCh37_chr12:46464825-46466024 [Gene]
  • LOC129390439:MPRA-validated peak1683 silencer [Gene]
  • LOC129390440:MPRA-validated peak1686 silencer [Gene]
  • LOC129390441:MPRA-validated peak1687 silencer [Gene]
  • LOC129390442:MPRA-validated peak1688 silencer [Gene]
  • LOC129390443:MPRA-validated peak1696 silencer [Gene]
  • LOC129390444:MPRA-validated peak1697 silencer [Gene]
  • LOC129390445:MPRA-validated peak1704 silencer [Gene]
  • LOC129390446:MPRA-validated peak1705 silencer [Gene]
  • LOC129390447:MPRA-validated peak1713 silencer [Gene]
  • LOC132090109:Neanderthal introgressed variant-containing enhancer experimental_28669 [Gene]
  • LOC126861510:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:43354422-43355621 [Gene]
  • PDZRN4:PDZ domain containing ring finger 4 [Gene - OMIM - HGNC]
  • SLC38A2-AS1:SLC38A2 antisense RNA 1 [Gene - HGNC]
  • SLC38A4-AS1:SLC38A4 antisense RNA 1 [Gene - HGNC]
  • SCAF11:SR-related CTD associated factor 11 [Gene - OMIM - HGNC]
  • LOC112163594:Sharpr-MPRA regulatory region 10514 [Gene]
  • LOC124629345:Sharpr-MPRA regulatory region 10724 [Gene]
  • LOC121832833:Sharpr-MPRA regulatory region 5471 [Gene]
  • LOC113939936:Sharpr-MPRA regulatory region 8796 [Gene]
  • YAF2:YY1 associated factor 2 [Gene - OMIM - HGNC]
  • ANO6:anoctamin 6 [Gene - OMIM - HGNC]
  • CNTN1:contactin 1 [Gene - OMIM - HGNC]
  • DBX2:developing brain homeobox 2 [Gene - OMIM - HGNC]
  • GXYLT1:glucoside xylosyltransferase 1 [Gene - OMIM - HGNC]
  • IRAK4:interleukin 1 receptor associated kinase 4 [Gene - OMIM - HGNC]
  • LINC02400:long intergenic non-protein coding RNA 2400 [Gene - HGNC]
  • LINC02402:long intergenic non-protein coding RNA 2402 [Gene - HGNC]
  • LINC02450:long intergenic non-protein coding RNA 2450 [Gene - HGNC]
  • LINC02451:long intergenic non-protein coding RNA 2451 [Gene - HGNC]
  • LINC02461:long intergenic non-protein coding RNA 2461 [Gene - HGNC]
  • LINC00938:long intergenic non-protein coding RNA 938 [Gene - HGNC]
  • MIR7851:microRNA 7851 [Gene - HGNC]
  • NELL2:neural EGFL like 2 [Gene - OMIM - HGNC]
  • PPHLN1:periphilin 1 [Gene - OMIM - HGNC]
  • PRICKLE1:prickle planar cell polarity protein 1 [Gene - OMIM - HGNC]
  • PUS7L:pseudouridine synthase 7 like [Gene - HGNC]
  • SLC38A1:solute carrier family 38 member 1 [Gene - OMIM - HGNC]
  • SLC38A2:solute carrier family 38 member 2 [Gene - OMIM - HGNC]
  • TMEM117:transmembrane protein 117 [Gene - HGNC]
  • TWF1:twinfilin actin binding protein 1 [Gene - OMIM - HGNC]
  • ZCRB1:zinc finger CCHC-type and RNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q12-13.11
Genomic location:
Preferred name:
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1
HGVS:
  • NC_000012.12:g.(?_40713887)_(46551900_?)del
  • NC_000012.10:g.(?_39393956)_(45231950_?)del
  • NC_000012.11:g.(?_41107689)_(46945683_?)del
Links:
dbVar: nssv1601846; dbVar: nsv915887
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178993ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		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 4, SCV000178993.3

#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