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GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1 AND See cases

Germline classification:
Uncertain significance (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:
RCV000135387.3

Allele description [Variation Report for GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1]

GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1

Genes:
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • LOC130056645:ATAC-STARR-seq lymphoblastoid active region 9126 [Gene]
  • LOC130056649:ATAC-STARR-seq lymphoblastoid active region 9127 [Gene]
  • LOC130056650:ATAC-STARR-seq lymphoblastoid active region 9128 [Gene]
  • LOC130056652:ATAC-STARR-seq lymphoblastoid active region 9129 [Gene]
  • LOC130056653:ATAC-STARR-seq lymphoblastoid active region 9130 [Gene]
  • LOC130056654:ATAC-STARR-seq lymphoblastoid active region 9131 [Gene]
  • LOC130056655:ATAC-STARR-seq lymphoblastoid active region 9132 [Gene]
  • LOC130056656:ATAC-STARR-seq lymphoblastoid active region 9133 [Gene]
  • LOC130056657:ATAC-STARR-seq lymphoblastoid active region 9134 [Gene]
  • LOC130056658:ATAC-STARR-seq lymphoblastoid active region 9135 [Gene]
  • LOC130056659:ATAC-STARR-seq lymphoblastoid active region 9137 [Gene]
  • LOC130056660:ATAC-STARR-seq lymphoblastoid active region 9138 [Gene]
  • LOC130056666:ATAC-STARR-seq lymphoblastoid active region 9140 [Gene]
  • LOC130056669:ATAC-STARR-seq lymphoblastoid active region 9141 [Gene]
  • LOC130056670:ATAC-STARR-seq lymphoblastoid active region 9142 [Gene]
  • LOC130056671:ATAC-STARR-seq lymphoblastoid active region 9143 [Gene]
  • LOC130056672:ATAC-STARR-seq lymphoblastoid active region 9144 [Gene]
  • LOC130056678:ATAC-STARR-seq lymphoblastoid active region 9145 [Gene]
  • LOC130056679:ATAC-STARR-seq lymphoblastoid active region 9146 [Gene]
  • LOC130056693:ATAC-STARR-seq lymphoblastoid active region 9149 [Gene]
  • LOC130056701:ATAC-STARR-seq lymphoblastoid active region 9151 [Gene]
  • LOC130056646:ATAC-STARR-seq lymphoblastoid silent region 6207 [Gene]
  • LOC130056647:ATAC-STARR-seq lymphoblastoid silent region 6208 [Gene]
  • LOC130056648:ATAC-STARR-seq lymphoblastoid silent region 6209 [Gene]
  • LOC130056651:ATAC-STARR-seq lymphoblastoid silent region 6213 [Gene]
  • LOC130056661:ATAC-STARR-seq lymphoblastoid silent region 6214 [Gene]
  • LOC130056662:ATAC-STARR-seq lymphoblastoid silent region 6215 [Gene]
  • LOC130056663:ATAC-STARR-seq lymphoblastoid silent region 6216 [Gene]
  • LOC130056664:ATAC-STARR-seq lymphoblastoid silent region 6217 [Gene]
  • LOC130056665:ATAC-STARR-seq lymphoblastoid silent region 6218 [Gene]
  • LOC130056667:ATAC-STARR-seq lymphoblastoid silent region 6221 [Gene]
  • LOC130056668:ATAC-STARR-seq lymphoblastoid silent region 6223 [Gene]
  • LOC130056673:ATAC-STARR-seq lymphoblastoid silent region 6224 [Gene]
  • LOC130056674:ATAC-STARR-seq lymphoblastoid silent region 6225 [Gene]
  • LOC130056675:ATAC-STARR-seq lymphoblastoid silent region 6226 [Gene]
  • LOC130056676:ATAC-STARR-seq lymphoblastoid silent region 6227 [Gene]
  • LOC130056677:ATAC-STARR-seq lymphoblastoid silent region 6228 [Gene]
  • LOC130056680:ATAC-STARR-seq lymphoblastoid silent region 6230 [Gene]
  • LOC130056681:ATAC-STARR-seq lymphoblastoid silent region 6232 [Gene]
  • LOC130056682:ATAC-STARR-seq lymphoblastoid silent region 6233 [Gene]
  • LOC130056683:ATAC-STARR-seq lymphoblastoid silent region 6234 [Gene]
  • LOC130056684:ATAC-STARR-seq lymphoblastoid silent region 6235 [Gene]
  • LOC130056685:ATAC-STARR-seq lymphoblastoid silent region 6236 [Gene]
  • LOC130056686:ATAC-STARR-seq lymphoblastoid silent region 6237 [Gene]
  • LOC130056687:ATAC-STARR-seq lymphoblastoid silent region 6238 [Gene]
  • LOC130056688:ATAC-STARR-seq lymphoblastoid silent region 6239 [Gene]
  • LOC130056689:ATAC-STARR-seq lymphoblastoid silent region 6240 [Gene]
  • LOC130056690:ATAC-STARR-seq lymphoblastoid silent region 6241 [Gene]
  • LOC130056691:ATAC-STARR-seq lymphoblastoid silent region 6242 [Gene]
  • LOC130056692:ATAC-STARR-seq lymphoblastoid silent region 6243 [Gene]
  • LOC130056694:ATAC-STARR-seq lymphoblastoid silent region 6245 [Gene]
  • LOC130056695:ATAC-STARR-seq lymphoblastoid silent region 6246 [Gene]
  • LOC130056696:ATAC-STARR-seq lymphoblastoid silent region 6247 [Gene]
  • LOC130056697:ATAC-STARR-seq lymphoblastoid silent region 6248 [Gene]
  • LOC130056698:ATAC-STARR-seq lymphoblastoid silent region 6249 [Gene]
  • LOC130056699:ATAC-STARR-seq lymphoblastoid silent region 6250 [Gene]
  • LOC130056700:ATAC-STARR-seq lymphoblastoid silent region 6253 [Gene]
  • LOC130056702:ATAC-STARR-seq lymphoblastoid silent region 6254 [Gene]
  • LOC108348026:ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [Gene]
  • LOC126862070:BRD4-independent group 4 enhancer GRCh37_chr14:105536095-105537294 [Gene]
  • LOC126862073:BRD4-independent group 4 enhancer GRCh37_chr14:106662526-106663725 [Gene]
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • BTBD6:BTB domain containing 6 [Gene - HGNC]
  • LOC126862072:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:106657005-106658204 [Gene]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • LOC129390674:MPRA-validated peak2261 silencer [Gene]
  • MTA1-DT:MTA1 divergent transcript [Gene - HGNC]
  • LOC132090878:Neanderthal introgressed variant-containing enhancer experimental_33767 [Gene]
  • LOC126862071:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:106445918-106447117 [Gene]
  • LOC112163685:Sharpr-MPRA regulatory region 5751 [Gene]
  • LOC125078045:Sharpr-MPRA regulatory region 9919 [Gene]
  • CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
  • CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • FAM30A:family with sequence similarity 30 member A [Gene - OMIM - HGNC]
  • IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
  • IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
  • IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
  • IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
  • IGHG1:immunoglobulin heavy constant gamma 1 (G1m marker) [Gene - OMIM - HGNC]
  • IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
  • IGHG3:immunoglobulin heavy constant gamma 3 (G3m marker) [Gene - OMIM - HGNC]
  • IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [Gene - OMIM - HGNC]
  • IGHM:immunoglobulin heavy constant mu [Gene - OMIM - HGNC]
  • IGHD1-14:immunoglobulin heavy diversity 1-14 (non-functional) [Gene - HGNC]
  • IGHD1-1:immunoglobulin heavy diversity 1-1 [Gene - HGNC]
  • IGHD1-20:immunoglobulin heavy diversity 1-20 [Gene - HGNC]
  • IGHD1-26:immunoglobulin heavy diversity 1-26 [Gene - HGNC]
  • IGHD1-7:immunoglobulin heavy diversity 1-7 [Gene - HGNC]
  • IGHD2-15:immunoglobulin heavy diversity 2-15 [Gene - HGNC]
  • IGHD2-21:immunoglobulin heavy diversity 2-21 [Gene - HGNC]
  • IGHD2-2:immunoglobulin heavy diversity 2-2 [Gene - HGNC]
  • IGHD2-8:immunoglobulin heavy diversity 2-8 [Gene - HGNC]
  • IGHD3-10:immunoglobulin heavy diversity 3-10 [Gene - HGNC]
  • IGHD3-16:immunoglobulin heavy diversity 3-16 [Gene - HGNC]
  • IGHD3-22:immunoglobulin heavy diversity 3-22 [Gene - HGNC]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGHD3-9:immunoglobulin heavy diversity 3-9 [Gene - HGNC]
  • IGHD4-11:immunoglobulin heavy diversity 4-11 (non-functional) [Gene - HGNC]
  • IGHD4-17:immunoglobulin heavy diversity 4-17 [Gene - HGNC]
  • IGHD4-23:immunoglobulin heavy diversity 4-23 (non-functional) [Gene - HGNC]
  • IGHD4-4:immunoglobulin heavy diversity 4-4 [Gene - HGNC]
  • IGHD5-12:immunoglobulin heavy diversity 5-12 [Gene - HGNC]
  • IGHD5-18:immunoglobulin heavy diversity 5-18 [Gene - HGNC]
  • IGHD5-24:immunoglobulin heavy diversity 5-24 (non-functional) [Gene - HGNC]
  • IGHD5-5:immunoglobulin heavy diversity 5-5 [Gene - HGNC]
  • IGHD6-13:immunoglobulin heavy diversity 6-13 [Gene - HGNC]
  • IGHD6-19:immunoglobulin heavy diversity 6-19 [Gene - HGNC]
  • IGHD6-25:immunoglobulin heavy diversity 6-25 [Gene - HGNC]
  • IGHD6-6:immunoglobulin heavy diversity 6-6 [Gene - HGNC]
  • IGHD7-27:immunoglobulin heavy diversity 7-27 [Gene - HGNC]
  • IGHJ1:immunoglobulin heavy joining 1 [Gene - HGNC]
  • IGHJ2:immunoglobulin heavy joining 2 [Gene - HGNC]
  • IGHJ3:immunoglobulin heavy joining 3 [Gene - HGNC]
  • IGHJ4:immunoglobulin heavy joining 4 [Gene - HGNC]
  • IGHJ5:immunoglobulin heavy joining 5 [Gene - HGNC]
  • IGHJ6:immunoglobulin heavy joining 6 [Gene - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • IGHV1-18:immunoglobulin heavy variable 1-18 [Gene - HGNC]
  • IGHV1-24:immunoglobulin heavy variable 1-24 [Gene - HGNC]
  • IGHV1-2:immunoglobulin heavy variable 1-2 [Gene - HGNC]
  • IGHV1-3:immunoglobulin heavy variable 1-3 [Gene - HGNC]
  • IGHV1-45:immunoglobulin heavy variable 1-45 [Gene - HGNC]
  • IGHV1-46:immunoglobulin heavy variable 1-46 [Gene - HGNC]
  • IGHV1-58:immunoglobulin heavy variable 1-58 [Gene - HGNC]
  • IGHV1-69-2:immunoglobulin heavy variable 1-69-2 [Gene - HGNC]
  • IGHV1-69:immunoglobulin heavy variable 1-69 [Gene - HGNC]
  • IGHV1-69D:immunoglobulin heavy variable 1-69D [Gene - HGNC]
  • IGHV2-26:immunoglobulin heavy variable 2-26 [Gene - HGNC]
  • IGHV2-5:immunoglobulin heavy variable 2-5 [Gene - HGNC]
  • IGHV2-70:immunoglobulin heavy variable 2-70 [Gene - HGNC]
  • IGHV2-70D:immunoglobulin heavy variable 2-70D [Gene - HGNC]
  • IGHV3-11:immunoglobulin heavy variable 3-11 [Gene - HGNC]
  • IGHV3-13:immunoglobulin heavy variable 3-13 [Gene - HGNC]
  • IGHV3-15:immunoglobulin heavy variable 3-15 [Gene - HGNC]
  • IGHV3-16:immunoglobulin heavy variable 3-16 (non-functional) [Gene - HGNC]
  • IGHV3-20:immunoglobulin heavy variable 3-20 [Gene - HGNC]
  • IGHV3-21:immunoglobulin heavy variable 3-21 [Gene - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
  • IGHV3-30:immunoglobulin heavy variable 3-30 [Gene - HGNC]
  • IGHV3-33:immunoglobulin heavy variable 3-33 [Gene - HGNC]
  • IGHV3-35:immunoglobulin heavy variable 3-35 (non-functional) [Gene - HGNC]
  • IGHV3-38:immunoglobulin heavy variable 3-38 (non-functional) [Gene - HGNC]
  • IGHV3-43:immunoglobulin heavy variable 3-43 [Gene - HGNC]
  • IGHV3-48:immunoglobulin heavy variable 3-48 [Gene - HGNC]
  • IGHV3-49:immunoglobulin heavy variable 3-49 [Gene - HGNC]
  • IGHV3-53:immunoglobulin heavy variable 3-53 [Gene - HGNC]
  • IGHV3-64:immunoglobulin heavy variable 3-64 [Gene - HGNC]
  • IGHV3-64D:immunoglobulin heavy variable 3-64D [Gene - HGNC]
  • IGHV3-66:immunoglobulin heavy variable 3-66 [Gene - HGNC]
  • IGHV3-72:immunoglobulin heavy variable 3-72 [Gene - HGNC]
  • IGHV3-73:immunoglobulin heavy variable 3-73 [Gene - HGNC]
  • IGHV3-74:immunoglobulin heavy variable 3-74 [Gene - HGNC]
  • IGHV3-7:immunoglobulin heavy variable 3-7 [Gene - HGNC]
  • IGHV4-28:immunoglobulin heavy variable 4-28 [Gene - HGNC]
  • IGHV4-30-2:immunoglobulin heavy variable 4-30-2 [Gene - HGNC]
  • IGHV4-31:immunoglobulin heavy variable 4-31 [Gene - HGNC]
  • IGHV4-34:immunoglobulin heavy variable 4-34 [Gene - HGNC]
  • IGHV4-39:immunoglobulin heavy variable 4-39 [Gene - HGNC]
  • IGHV4-4:immunoglobulin heavy variable 4-4 [Gene - HGNC]
  • IGHV4-59:immunoglobulin heavy variable 4-59 [Gene - HGNC]
  • IGHV4-61:immunoglobulin heavy variable 4-61 [Gene - HGNC]
  • IGHV5-10-1:immunoglobulin heavy variable 5-10-1 [Gene - HGNC]
  • IGHV5-51:immunoglobulin heavy variable 5-51 [Gene - HGNC]
  • IGHV6-1:immunoglobulin heavy variable 6-1 [Gene - HGNC]
  • IGHV7-4-1:immunoglobulin heavy variable 7-4-1 [Gene - HGNC]
  • JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
  • LINC00221:long intergenic non-protein coding RNA 221 [Gene - HGNC]
  • LINC00226:long intergenic non-protein coding RNA 226 [Gene - HGNC]
  • LINC02298:long intergenic non-protein coding RNA 2298 [Gene - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
  • MIR4507:microRNA 4507 [Gene - HGNC]
  • MIR4537:microRNA 4537 [Gene - HGNC]
  • MIR4538:microRNA 4538 [Gene - HGNC]
  • MIR4539:microRNA 4539 [Gene - HGNC]
  • MIR5195:microRNA 5195 [Gene - HGNC]
  • MIR6765:microRNA 6765 [Gene - HGNC]
  • MIR8071-1:microRNA 8071-1 [Gene - HGNC]
  • MIR8071-2:microRNA 8071-2 [Gene - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • LOC105370697:uncharacterized LOC105370697 [Gene]
Variant type:
copy number loss
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1
HGVS:
  • NC_000014.9:g.(?_104953508)_(106873666_?)del
  • NC_000014.7:g.(?_104490890)_(106352920_?)del
  • NC_000014.8:g.(?_105419845)_(107281875_?)del
Links:
dbVar: nssv585316; dbVar: nsv498596
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
SCV000175067GeneDx
no assertion criteria provided
Uncertain significance
(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, SCV000175067.3

#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