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GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000135282.5

Allele description [Variation Report for GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1]

GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1

Genes:
  • LOC107305683:2q12.2 recombination region [Gene]
  • LOC129934479:ATAC-STARR-seq lymphoblastoid active region 16309 [Gene]
  • LOC129934480:ATAC-STARR-seq lymphoblastoid active region 16310 [Gene]
  • LOC129934481:ATAC-STARR-seq lymphoblastoid active region 16311 [Gene]
  • LOC129934482:ATAC-STARR-seq lymphoblastoid active region 16313 [Gene]
  • LOC129934484:ATAC-STARR-seq lymphoblastoid active region 16314 [Gene]
  • LOC129934485:ATAC-STARR-seq lymphoblastoid active region 16315 [Gene]
  • LOC129934486:ATAC-STARR-seq lymphoblastoid active region 16316 [Gene]
  • LOC129934487:ATAC-STARR-seq lymphoblastoid active region 16317 [Gene]
  • LOC129934491:ATAC-STARR-seq lymphoblastoid active region 16318 [Gene]
  • LOC129934492:ATAC-STARR-seq lymphoblastoid active region 16319 [Gene]
  • LOC129934493:ATAC-STARR-seq lymphoblastoid active region 16320 [Gene]
  • LOC129934494:ATAC-STARR-seq lymphoblastoid active region 16321 [Gene]
  • LOC129934495:ATAC-STARR-seq lymphoblastoid active region 16322 [Gene]
  • LOC129934496:ATAC-STARR-seq lymphoblastoid active region 16324 [Gene]
  • LOC129934497:ATAC-STARR-seq lymphoblastoid active region 16325 [Gene]
  • LOC129934498:ATAC-STARR-seq lymphoblastoid active region 16326 [Gene]
  • LOC129934501:ATAC-STARR-seq lymphoblastoid active region 16327 [Gene]
  • LOC129934502:ATAC-STARR-seq lymphoblastoid active region 16328 [Gene]
  • LOC129934503:ATAC-STARR-seq lymphoblastoid active region 16329 [Gene]
  • LOC129934504:ATAC-STARR-seq lymphoblastoid active region 16330 [Gene]
  • LOC129934505:ATAC-STARR-seq lymphoblastoid active region 16331 [Gene]
  • LOC129934506:ATAC-STARR-seq lymphoblastoid active region 16332 [Gene]
  • LOC129934507:ATAC-STARR-seq lymphoblastoid active region 16333 [Gene]
  • LOC129934508:ATAC-STARR-seq lymphoblastoid active region 16334 [Gene]
  • LOC129934509:ATAC-STARR-seq lymphoblastoid active region 16335 [Gene]
  • LOC129934510:ATAC-STARR-seq lymphoblastoid active region 16336 [Gene]
  • LOC129934511:ATAC-STARR-seq lymphoblastoid active region 16337 [Gene]
  • LOC129934512:ATAC-STARR-seq lymphoblastoid active region 16338 [Gene]
  • LOC129934514:ATAC-STARR-seq lymphoblastoid active region 16339 [Gene]
  • LOC129934517:ATAC-STARR-seq lymphoblastoid active region 16340 [Gene]
  • LOC129934477:ATAC-STARR-seq lymphoblastoid silent region 11835 [Gene]
  • LOC129934478:ATAC-STARR-seq lymphoblastoid silent region 11836 [Gene]
  • LOC129934483:ATAC-STARR-seq lymphoblastoid silent region 11837 [Gene]
  • LOC129934488:ATAC-STARR-seq lymphoblastoid silent region 11840 [Gene]
  • LOC129934489:ATAC-STARR-seq lymphoblastoid silent region 11841 [Gene]
  • LOC129934490:ATAC-STARR-seq lymphoblastoid silent region 11842 [Gene]
  • LOC129934499:ATAC-STARR-seq lymphoblastoid silent region 11843 [Gene]
  • LOC129934500:ATAC-STARR-seq lymphoblastoid silent region 11844 [Gene]
  • LOC129934513:ATAC-STARR-seq lymphoblastoid silent region 11845 [Gene]
  • LOC129934515:ATAC-STARR-seq lymphoblastoid silent region 11846 [Gene]
  • LOC129934516:ATAC-STARR-seq lymphoblastoid silent region 11847 [Gene]
  • LOC129934518:ATAC-STARR-seq lymphoblastoid silent region 11848 [Gene]
  • C2orf49-DT:C2orf49 divergent transcript [Gene - HGNC]
  • CD8B2:CD8B family member 2 [Gene - HGNC]
  • LOC126806296:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:105362448-105363647 [Gene]
  • LOC126806298:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:106669310-106670509 [Gene]
  • LOC126806299:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:107363599-107364798 [Gene]
  • ECRG4:ECRG4 augurin precursor [Gene - OMIM - HGNC]
  • GPR45:G protein-coupled receptor 45 [Gene - OMIM - HGNC]
  • MRPS9-AS1:MRPS9 antisense RNA 1 [Gene - HGNC]
  • MRPS9-AS2:MRPS9 antisense RNA 2 [Gene - HGNC]
  • NCK2:NCK adaptor protein 2 [Gene - OMIM - HGNC]
  • LOC132088750:Neanderthal introgressed variant-containing enhancer experimental_52468 [Gene]
  • LOC126806297:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:105585853-105587052 [Gene]
  • POU3F3:POU class 3 homeobox 3 [Gene - OMIM - HGNC]
  • PANTR1:POU3F3 adjacent non-coding transcript 1 [Gene - OMIM - HGNC]
  • RGPD3:RANBP2 like and GRIP domain containing 3 [Gene - OMIM - HGNC]
  • ST6GAL2:ST6 beta-galactoside alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
  • LOC112695110:Sharpr-MPRA regulatory region 1600 [Gene]
  • LOC122817719:Sharpr-MPRA regulatory region 193 [Gene]
  • LOC112695111:Sharpr-MPRA regulatory region 2466 [Gene]
  • LOC121725098:Sharpr-MPRA regulatory region 6730 [Gene]
  • LOC122817720:Sharpr-MPRA regulatory region 856 [Gene]
  • LOC114004366:Sharpr-MPRA regulatory region 936 [Gene]
  • UXS1:UDP-glucuronate decarboxylase 1 [Gene - OMIM - HGNC]
  • LOC110121001:VISTA enhancer hs1131 [Gene]
  • LOC110121017:VISTA enhancer hs1177 [Gene]
  • LOC110121135:VISTA enhancer hs1534 [Gene]
  • LOC110121140:VISTA enhancer hs1553 [Gene]
  • LOC114827847:VISTA enhancer hs2590 [Gene]
  • LOC110120750:VISTA enhancer hs702 [Gene]
  • LOC110120793:VISTA enhancer hs868 [Gene]
  • LOC110120814:VISTA enhancer hs969 [Gene]
  • LOC110120821:VISTA enhancer hs990 [Gene]
  • C2orf49:chromosome 2 open reading frame 49 [Gene - HGNC]
  • FHL2:four and a half LIM domains 2 [Gene - OMIM - HGNC]
  • LINC01102:long intergenic non-protein coding RNA 1102 [Gene - HGNC]
  • LINC01103:long intergenic non-protein coding RNA 1103 [Gene - HGNC]
  • LINC01114:long intergenic non-protein coding RNA 1114 [Gene - HGNC]
  • LINC01159:long intergenic non-protein coding RNA 1159 [Gene - OMIM - HGNC]
  • LINC01789:long intergenic non-protein coding RNA 1789 [Gene - HGNC]
  • LINC01831:long intergenic non-protein coding RNA 1831 [Gene - HGNC]
  • LINC01918:long intergenic non-protein coding RNA 1918 [Gene - HGNC]
  • LINC02946:long intergenic non-protein coding RNA 2946 [Gene - HGNC]
  • MRPS9:mitochondrial ribosomal protein S9 [Gene - OMIM - HGNC]
  • TGFBRAP1:transforming growth factor beta receptor associated protein 1 [Gene - OMIM - HGNC]
  • LOC100287010:uncharacterized LOC100287010 [Gene]
  • LOC101927383:uncharacterized LOC101927383 [Gene]
  • LOC105373524:uncharacterized LOC105373524 [Gene]
  • LOC105373525:uncharacterized LOC105373525 [Gene]
  • LOC105373526:uncharacterized LOC105373526 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2q12.1-12.3
Genomic location:
Preferred name:
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1
HGVS:
  • NC_000002.12:g.(?_104381722)_(107312459_?)del
  • NC_000002.10:g.(?_104364612)_(107295347_?)del
  • NC_000002.11:g.(?_104998180)_(107928915_?)del
Links:
dbVar: nssv585167; dbVar: nsv498456
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
SCV000174962GeneDx
no assertion criteria provided
Likely pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000174962.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023