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GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 26, 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:
RCV000140716.5

Allele description [Variation Report for GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1]

GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1

Genes:
  • LOC130007897:ATAC-STARR-seq lymphoblastoid active region 6362 [Gene]
  • LOC130007898:ATAC-STARR-seq lymphoblastoid active region 6363 [Gene]
  • LOC130007901:ATAC-STARR-seq lymphoblastoid active region 6364 [Gene]
  • LOC130007902:ATAC-STARR-seq lymphoblastoid active region 6365 [Gene]
  • LOC130007903:ATAC-STARR-seq lymphoblastoid active region 6366 [Gene]
  • LOC130007904:ATAC-STARR-seq lymphoblastoid active region 6367 [Gene]
  • LOC130007906:ATAC-STARR-seq lymphoblastoid active region 6370 [Gene]
  • LOC130007907:ATAC-STARR-seq lymphoblastoid active region 6371 [Gene]
  • LOC130007909:ATAC-STARR-seq lymphoblastoid active region 6372 [Gene]
  • LOC130007913:ATAC-STARR-seq lymphoblastoid active region 6373 [Gene]
  • LOC130007914:ATAC-STARR-seq lymphoblastoid active region 6375 [Gene]
  • LOC130007915:ATAC-STARR-seq lymphoblastoid active region 6376 [Gene]
  • LOC130007916:ATAC-STARR-seq lymphoblastoid active region 6377 [Gene]
  • LOC130007918:ATAC-STARR-seq lymphoblastoid active region 6378 [Gene]
  • LOC130007919:ATAC-STARR-seq lymphoblastoid active region 6379 [Gene]
  • LOC130007920:ATAC-STARR-seq lymphoblastoid active region 6380 [Gene]
  • LOC130007921:ATAC-STARR-seq lymphoblastoid active region 6381 [Gene]
  • LOC130007924:ATAC-STARR-seq lymphoblastoid active region 6382 [Gene]
  • LOC130007926:ATAC-STARR-seq lymphoblastoid active region 6383 [Gene]
  • LOC130007927:ATAC-STARR-seq lymphoblastoid active region 6384 [Gene]
  • LOC130007932:ATAC-STARR-seq lymphoblastoid active region 6385 [Gene]
  • LOC130007933:ATAC-STARR-seq lymphoblastoid active region 6386 [Gene]
  • LOC130007934:ATAC-STARR-seq lymphoblastoid active region 6387 [Gene]
  • LOC130007941:ATAC-STARR-seq lymphoblastoid active region 6389 [Gene]
  • LOC130007942:ATAC-STARR-seq lymphoblastoid active region 6391 [Gene]
  • LOC130007943:ATAC-STARR-seq lymphoblastoid active region 6392 [Gene]
  • LOC130007944:ATAC-STARR-seq lymphoblastoid active region 6393 [Gene]
  • LOC130007945:ATAC-STARR-seq lymphoblastoid active region 6394 [Gene]
  • LOC130007946:ATAC-STARR-seq lymphoblastoid active region 6395 [Gene]
  • LOC130007948:ATAC-STARR-seq lymphoblastoid active region 6396 [Gene]
  • LOC130007949:ATAC-STARR-seq lymphoblastoid active region 6397 [Gene]
  • LOC130007950:ATAC-STARR-seq lymphoblastoid active region 6398 [Gene]
  • LOC130007899:ATAC-STARR-seq lymphoblastoid silent region 4454 [Gene]
  • LOC130007900:ATAC-STARR-seq lymphoblastoid silent region 4455 [Gene]
  • LOC130007905:ATAC-STARR-seq lymphoblastoid silent region 4458 [Gene]
  • LOC130007908:ATAC-STARR-seq lymphoblastoid silent region 4459 [Gene]
  • LOC130007910:ATAC-STARR-seq lymphoblastoid silent region 4460 [Gene]
  • LOC130007911:ATAC-STARR-seq lymphoblastoid silent region 4461 [Gene]
  • LOC130007912:ATAC-STARR-seq lymphoblastoid silent region 4462 [Gene]
  • LOC130007917:ATAC-STARR-seq lymphoblastoid silent region 4466 [Gene]
  • LOC130007922:ATAC-STARR-seq lymphoblastoid silent region 4468 [Gene]
  • LOC130007923:ATAC-STARR-seq lymphoblastoid silent region 4469 [Gene]
  • LOC130007925:ATAC-STARR-seq lymphoblastoid silent region 4470 [Gene]
  • LOC130007928:ATAC-STARR-seq lymphoblastoid silent region 4471 [Gene]
  • LOC130007929:ATAC-STARR-seq lymphoblastoid silent region 4472 [Gene]
  • LOC130007930:ATAC-STARR-seq lymphoblastoid silent region 4473 [Gene]
  • LOC130007931:ATAC-STARR-seq lymphoblastoid silent region 4474 [Gene]
  • LOC130007935:ATAC-STARR-seq lymphoblastoid silent region 4477 [Gene]
  • LOC130007936:ATAC-STARR-seq lymphoblastoid silent region 4478 [Gene]
  • LOC130007937:ATAC-STARR-seq lymphoblastoid silent region 4479 [Gene]
  • LOC130007938:ATAC-STARR-seq lymphoblastoid silent region 4480 [Gene]
  • LOC130007939:ATAC-STARR-seq lymphoblastoid silent region 4481 [Gene]
  • LOC130007940:ATAC-STARR-seq lymphoblastoid silent region 4482 [Gene]
  • LOC130007947:ATAC-STARR-seq lymphoblastoid silent region 4483 [Gene]
  • LOC126861525:BRD4-independent group 4 enhancer GRCh37_chr12:52909857-52911056 [Gene]
  • LOC126861526:BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265 [Gene]
  • LOC126861527:BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689 [Gene]
  • LOC126861528:BRD4-independent group 4 enhancer GRCh37_chr12:53230567-53231766 [Gene]
  • LOC126861524:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:52835896-52837095 [Gene]
  • LOC116268439:CRISPRi-validated cis-regulatory element chr12.1615 [Gene]
  • DAZAP2:DAZ associated protein 2 [Gene - OMIM - HGNC]
  • FIGNL2-DT:FIGNL2 divergent transcript [Gene - HGNC]
  • HIGD1C:HIG1 hypoxia inducible domain family member 1C [Gene - OMIM - HGNC]
  • KRT7-AS:KRT7 antisense RNA 1 [Gene - HGNC]
  • KRT73-AS1:KRT73 antisense RNA 1 [Gene - HGNC]
  • LETMD1:LETM1 domain containing 1 [Gene - OMIM - HGNC]
  • LOC126861523:MED14-independent group 3 enhancer GRCh37_chr12:52673861-52675060 [Gene]
  • LOC129390457:MPRA-validated peak1732 silencer [Gene]
  • LOC129390458:MPRA-validated peak1733 silencer [Gene]
  • LOC129390459:MPRA-validated peak1735 silencer [Gene]
  • NR4A1AS:NR4A1 antisense RNA [Gene - HGNC]
  • LOC132090111:Neanderthal introgressed variant-containing enhancer experimental_28931 [Gene]
  • LOC132090846:Neanderthal introgressed variant-containing enhancer experimental_28991 [Gene]
  • LOC132090112:Neanderthal introgressed variant-containing enhancer experimental_28997 [Gene]
  • LOC132090113:Neanderthal introgressed variant-containing enhancer experimental_28998 [Gene]
  • LOC132090114:Neanderthal introgressed variant-containing enhancer experimental_29013 [Gene]
  • LOC132090115:Neanderthal introgressed variant-containing enhancer experimental_29072 [Gene]
  • LOC132090847:Neanderthal introgressed variant-containing enhancer experimental_29100 [Gene]
  • LOC132090116:Neanderthal introgressed variant-containing enhancer experimental_29110 [Gene]
  • LOC132090117:Neanderthal introgressed variant-containing enhancer experimental_29208 [Gene]
  • POU6F1:POU class 6 homeobox 1 [Gene - OMIM - HGNC]
  • LOC114803470:SCN8A eExon liver enhancer [Gene]
  • LOC124629358:Sharpr-MPRA regulatory region 12465 [Gene]
  • LOC112163605:Sharpr-MPRA regulatory region 2055 [Gene]
  • LOC112163606:Sharpr-MPRA regulatory region 3292 [Gene]
  • LOC112163601:Sharpr-MPRA regulatory region 4642 [Gene]
  • LOC124629357:Sharpr-MPRA regulatory region 8177 [Gene]
  • LOC112163602:Sharpr-MPRA regulatory region 9853 [Gene]
  • TAMALIN-AS1:TAMALIN antisense RNA 1 [Gene - HGNC]
  • ATF1:activating transcription factor 1 [Gene - OMIM - HGNC]
  • ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
  • ACVR1B:activin A receptor type 1B [Gene - OMIM - HGNC]
  • ANKRD33:ankyrin repeat domain 33 [Gene - OMIM - HGNC]
  • ATG101:autophagy related 101 [Gene - OMIM - HGNC]
  • BIN2:bridging integrator 2 [Gene - OMIM - HGNC]
  • CELA1:chymotrypsin like elastase 1 [Gene - OMIM - HGNC]
  • CSRNP2:cysteine and serine rich nuclear protein 2 [Gene - OMIM - HGNC]
  • DIP2B:disco interacting protein 2 homolog B [Gene - OMIM - HGNC]
  • FIGNL2:fidgetin like 2 [Gene - OMIM - HGNC]
  • KRT1:keratin 1 [Gene - OMIM - HGNC]
  • KRT2:keratin 2 [Gene - OMIM - HGNC]
  • KRT3:keratin 3 [Gene - OMIM - HGNC]
  • KRT4:keratin 4 [Gene - OMIM - HGNC]
  • KRT5:keratin 5 [Gene - OMIM - HGNC]
  • KRT6A:keratin 6A [Gene - OMIM - HGNC]
  • KRT6B:keratin 6B [Gene - OMIM - HGNC]
  • KRT6C:keratin 6C [Gene - OMIM - HGNC]
  • KRT71:keratin 71 [Gene - OMIM - HGNC]
  • KRT72:keratin 72 [Gene - OMIM - HGNC]
  • KRT73:keratin 73 [Gene - OMIM - HGNC]
  • KRT74:keratin 74 [Gene - OMIM - HGNC]
  • KRT75:keratin 75 [Gene - OMIM - HGNC]
  • KRT76:keratin 76 [Gene - OMIM - HGNC]
  • KRT77:keratin 77 [Gene - OMIM - HGNC]
  • KRT78:keratin 78 [Gene - OMIM - HGNC]
  • KRT79:keratin 79 [Gene - OMIM - HGNC]
  • KRT7:keratin 7 [Gene - OMIM - HGNC]
  • KRT80:keratin 80 [Gene - OMIM - HGNC]
  • KRT81:keratin 81 [Gene - OMIM - HGNC]
  • KRT82:keratin 82 [Gene - OMIM - HGNC]
  • KRT83:keratin 83 [Gene - OMIM - HGNC]
  • KRT84:keratin 84 [Gene - OMIM - HGNC]
  • KRT85:keratin 85 [Gene - OMIM - HGNC]
  • KRT86:keratin 86 [Gene - OMIM - HGNC]
  • LINC02874:long intergenic non-protein coding RNA 2874 [Gene - HGNC]
  • LINC00592:long intergenic non-protein coding RNA 592 [Gene - HGNC]
  • NR4A1:nuclear receptor subfamily 4 group A member 1 [Gene - OMIM - HGNC]
  • GALNT6:polypeptide N-acetylgalactosaminyltransferase 6 [Gene - OMIM - HGNC]
  • SMAGP:small cell adhesion glycoprotein [Gene - HGNC]
  • SMIM41:small integral membrane protein 41 [Gene - HGNC]
  • SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
  • SLC11A2:solute carrier family 11 member 2 [Gene - OMIM - HGNC]
  • SLC4A8:solute carrier family 4 member 8 [Gene - OMIM - HGNC]
  • TMT1A:thiol methyltransferase 1A [Gene - OMIM - HGNC]
  • TAMALIN:trafficking regulator and scaffold protein tamalin [Gene - OMIM - HGNC]
  • TFCP2:transcription factor CP2 [Gene - OMIM - HGNC]
  • TMDD1:transmembrane and death domain 1 [Gene - HGNC]
  • TMPRSS12:transmembrane serine protease 12 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q13.12-13.13
Genomic location:
Preferred name:
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1
HGVS:
  • NC_000012.12:g.(?_50633888)_(52851909_?)del
  • NC_000012.10:g.(?_49313938)_(51531960_?)del
  • NC_000012.11:g.(?_51027671)_(53245693_?)del
Links:
dbVar: nssv1610140; dbVar: nsv931967
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
SCV000181456ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 26, 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 1, SCV000181456.4

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

Last Updated: Sep 1, 2024