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GRCh38/hg38 12q13.13(chr12:53099658-53724525)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:
RCV000052811.5

Allele description [Variation Report for GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1]

GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1

Genes:
  • LOC130007961:ATAC-STARR-seq lymphoblastoid active region 6403 [Gene]
  • LOC130007962:ATAC-STARR-seq lymphoblastoid active region 6404 [Gene]
  • LOC130007968:ATAC-STARR-seq lymphoblastoid active region 6405 [Gene]
  • LOC130007969:ATAC-STARR-seq lymphoblastoid active region 6406 [Gene]
  • LOC130007970:ATAC-STARR-seq lymphoblastoid active region 6407 [Gene]
  • LOC130007971:ATAC-STARR-seq lymphoblastoid active region 6408 [Gene]
  • LOC130007972:ATAC-STARR-seq lymphoblastoid active region 6414 [Gene]
  • LOC130007973:ATAC-STARR-seq lymphoblastoid active region 6415 [Gene]
  • LOC130007974:ATAC-STARR-seq lymphoblastoid active region 6416 [Gene]
  • LOC130007979:ATAC-STARR-seq lymphoblastoid active region 6417 [Gene]
  • LOC130007980:ATAC-STARR-seq lymphoblastoid active region 6418 [Gene]
  • LOC130007983:ATAC-STARR-seq lymphoblastoid active region 6420 [Gene]
  • 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]
  • LOC130007960:ATAC-STARR-seq lymphoblastoid silent region 4496 [Gene]
  • LOC130007963:ATAC-STARR-seq lymphoblastoid silent region 4497 [Gene]
  • LOC130007964:ATAC-STARR-seq lymphoblastoid silent region 4498 [Gene]
  • LOC130007965:ATAC-STARR-seq lymphoblastoid silent region 4499 [Gene]
  • LOC130007966:ATAC-STARR-seq lymphoblastoid silent region 4500 [Gene]
  • LOC130007967:ATAC-STARR-seq lymphoblastoid silent region 4501 [Gene]
  • LOC130007975:ATAC-STARR-seq lymphoblastoid silent region 4504 [Gene]
  • LOC130007976:ATAC-STARR-seq lymphoblastoid silent region 4505 [Gene]
  • LOC130007977:ATAC-STARR-seq lymphoblastoid silent region 4506 [Gene]
  • LOC130007978:ATAC-STARR-seq lymphoblastoid silent region 4507 [Gene]
  • LOC130007981:ATAC-STARR-seq lymphoblastoid silent region 4508 [Gene]
  • LOC130007982:ATAC-STARR-seq lymphoblastoid silent region 4509 [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]
  • ATF7-NPFF:ATF7-NPFF readthrough [Gene - HGNC]
  • ATP5MC2:ATP synthase membrane subunit c locus 2 [Gene - OMIM - HGNC]
  • LOC116268440:CRISPRi-validated cis-regulatory element chr12.1897 [Gene]
  • LOC126861529:MED14-independent group 3 enhancer GRCh37_chr12:53689034-53690233 [Gene]
  • LOC129390460:MPRA-validated peak1736 silencer [Gene]
  • MYG1:MYG1 exonuclease [Gene - OMIM - HGNC]
  • LOC112163607:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 [Gene]
  • PCBP2-OT1:PCBP2 overlapping transcript 1 [Gene - HGNC]
  • LOC124629366:Sharpr-MPRA regulatory region 1043 [Gene]
  • LOC112163608:Sharpr-MPRA regulatory region 10893 [Gene]
  • LOC124629364:Sharpr-MPRA regulatory region 11320 [Gene]
  • LOC124629363:Sharpr-MPRA regulatory region 11900 [Gene]
  • LOC121832835:Sharpr-MPRA regulatory region 12722 [Gene]
  • LOC124629365:Sharpr-MPRA regulatory region 13987 [Gene]
  • LOC124629367:Sharpr-MPRA regulatory region 2395 [Gene]
  • LOC112163609:Sharpr-MPRA regulatory region 3466 [Gene]
  • LOC121466701:Sharpr-MPRA regulatory region 7415 [Gene]
  • SP1:Sp1 transcription factor [Gene - OMIM - HGNC]
  • SP7:Sp7 transcription factor [Gene - OMIM - HGNC]
  • TARBP2:TARBP2 subunit of RISC loading complex [Gene - OMIM - HGNC]
  • ATF7:activating transcription factor 7 [Gene - OMIM - HGNC]
  • AAAS:aladin WD repeat nucleoporin [Gene - OMIM - HGNC]
  • AMHR2:anti-Mullerian hormone receptor type 2 [Gene - OMIM - HGNC]
  • CALCOCO1:calcium binding and coiled-coil domain 1 [Gene - HGNC]
  • CSAD:cysteine sulfinic acid decarboxylase [Gene - OMIM - HGNC]
  • ESPL1:extra spindle pole bodies like 1, separase [Gene - OMIM - HGNC]
  • IGFBP6:insulin like growth factor binding protein 6 [Gene - OMIM - HGNC]
  • ITGB7:integrin subunit beta 7 [Gene - OMIM - HGNC]
  • MFSD5:major facilitator superfamily domain containing 5 [Gene - OMIM - HGNC]
  • MAP3K12:mitogen-activated protein kinase kinase kinase 12 [Gene - OMIM - HGNC]
  • NPFF:neuropeptide FF-amide peptide precursor [Gene - OMIM - HGNC]
  • PCBP2:poly(rC) binding protein 2 [Gene - OMIM - HGNC]
  • PFDN5:prefoldin subunit 5 [Gene - OMIM - HGNC]
  • PRR13:proline rich 13 [Gene - OMIM - HGNC]
  • RARG:retinoic acid receptor gamma [Gene - OMIM - HGNC]
  • SOAT2:sterol O-acyltransferase 2 [Gene - OMIM - HGNC]
  • LOC100652999:uncharacterized LOC100652999 [Gene]
  • LOC122455340:uncharacterized LOC122455340 [Gene]
  • ZNF740:zinc finger protein 740 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1
HGVS:
  • NC_000012.12:g.(?_53099658)_(53724525_?)del
  • NC_000012.10:g.(?_51779709)_(52404576_?)del
  • NC_000012.11:g.(?_53493442)_(54118309_?)del
Links:
dbVar: nssv577386; dbVar: nsv531528
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
SCV000080165ISCA site 15

See additional submitters

criteria provided, single submitter

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

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 15, SCV000080165.4

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

Last Updated: May 7, 2024