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GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 AND See cases

Germline classification:
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:
RCV000135316.4

Allele description [Variation Report for GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1]

GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1

Genes:
  • LOC129993053:ATAC-STARR-seq lymphoblastoid active region 21886 [Gene]
  • LOC129993054:ATAC-STARR-seq lymphoblastoid active region 21887 [Gene]
  • LOC129993065:ATAC-STARR-seq lymphoblastoid active region 21890 [Gene]
  • LOC129993066:ATAC-STARR-seq lymphoblastoid active region 21891 [Gene]
  • LOC129993067:ATAC-STARR-seq lymphoblastoid active region 21892 [Gene]
  • LOC129993068:ATAC-STARR-seq lymphoblastoid active region 21893 [Gene]
  • LOC129993070:ATAC-STARR-seq lymphoblastoid active region 21894 [Gene]
  • LOC129993075:ATAC-STARR-seq lymphoblastoid active region 21895 [Gene]
  • LOC129993076:ATAC-STARR-seq lymphoblastoid active region 21896 [Gene]
  • LOC129993077:ATAC-STARR-seq lymphoblastoid active region 21897 [Gene]
  • LOC129993078:ATAC-STARR-seq lymphoblastoid active region 21898 [Gene]
  • LOC129993079:ATAC-STARR-seq lymphoblastoid active region 21899 [Gene]
  • LOC129993080:ATAC-STARR-seq lymphoblastoid active region 21900 [Gene]
  • LOC129993081:ATAC-STARR-seq lymphoblastoid active region 21901 [Gene]
  • LOC129993082:ATAC-STARR-seq lymphoblastoid active region 21902 [Gene]
  • LOC129993083:ATAC-STARR-seq lymphoblastoid active region 21903 [Gene]
  • LOC129993084:ATAC-STARR-seq lymphoblastoid active region 21904 [Gene]
  • LOC129993085:ATAC-STARR-seq lymphoblastoid active region 21905 [Gene]
  • LOC129993049:ATAC-STARR-seq lymphoblastoid silent region 15671 [Gene]
  • LOC129993050:ATAC-STARR-seq lymphoblastoid silent region 15672 [Gene]
  • LOC129993051:ATAC-STARR-seq lymphoblastoid silent region 15673 [Gene]
  • LOC129993052:ATAC-STARR-seq lymphoblastoid silent region 15674 [Gene]
  • LOC129993055:ATAC-STARR-seq lymphoblastoid silent region 15675 [Gene]
  • LOC129993056:ATAC-STARR-seq lymphoblastoid silent region 15676 [Gene]
  • LOC129993057:ATAC-STARR-seq lymphoblastoid silent region 15677 [Gene]
  • LOC129993058:ATAC-STARR-seq lymphoblastoid silent region 15678 [Gene]
  • LOC129993059:ATAC-STARR-seq lymphoblastoid silent region 15679 [Gene]
  • LOC129993060:ATAC-STARR-seq lymphoblastoid silent region 15681 [Gene]
  • LOC129993061:ATAC-STARR-seq lymphoblastoid silent region 15682 [Gene]
  • LOC129993062:ATAC-STARR-seq lymphoblastoid silent region 15683 [Gene]
  • LOC129993063:ATAC-STARR-seq lymphoblastoid silent region 15684 [Gene]
  • LOC129993064:ATAC-STARR-seq lymphoblastoid silent region 15685 [Gene]
  • LOC129993069:ATAC-STARR-seq lymphoblastoid silent region 15686 [Gene]
  • LOC129993071:ATAC-STARR-seq lymphoblastoid silent region 15687 [Gene]
  • LOC129993072:ATAC-STARR-seq lymphoblastoid silent region 15688 [Gene]
  • LOC129993073:ATAC-STARR-seq lymphoblastoid silent region 15689 [Gene]
  • LOC129993074:ATAC-STARR-seq lymphoblastoid silent region 15690 [Gene]
  • LOC126807153:BRD4-independent group 4 enhancer GRCh37_chr4:129390695-129391894 [Gene]
  • LOC126807151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 [Gene]
  • LOC126807152:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:129308825-129310024 [Gene]
  • LOC126807158:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:132486813-132488012 [Gene]
  • LOC126807159:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:133440023-133441222 [Gene]
  • FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
  • LARP1B:La ribonucleoprotein 1B [Gene - OMIM - HGNC]
  • LOC126807154:MED14-independent group 3 enhancer GRCh37_chr4:129606954-129608153 [Gene]
  • LOC126807155:MED14-independent group 3 enhancer GRCh37_chr4:130504726-130505925 [Gene]
  • LOC126807156:MED14-independent group 3 enhancer GRCh37_chr4:130972816-130974015 [Gene]
  • LOC129389235:MPRA-validated peak5104 silencer [Gene]
  • LOC129389236:MPRA-validated peak5106 silencer [Gene]
  • LOC111413048:NFE2L2 motif-containing MPRA enhancer 199 [Gene]
  • LOC132089013:Neanderthal introgressed variant-containing enhancer experimental_73007 [Gene]
  • LOC132089014:Neanderthal introgressed variant-containing enhancer experimental_73151 [Gene]
  • LOC132090711:Neanderthal introgressed variant-containing enhancer experimental_73157 [Gene]
  • LOC132089015:Neanderthal introgressed variant-containing enhancer experimental_73174 [Gene]
  • LOC132089016:Neanderthal introgressed variant-containing enhancer experimental_73198 [Gene]
  • LOC132089017:Neanderthal introgressed variant-containing enhancer experimental_73219 [Gene]
  • LOC132089018:Neanderthal introgressed variant-containing enhancer experimental_73301 [Gene]
  • LOC132089019:Neanderthal introgressed variant-containing enhancer experimental_73347 [Gene]
  • LOC132089020:Neanderthal introgressed variant-containing enhancer experimental_73368 [Gene]
  • LOC132089021:Neanderthal introgressed variant-containing enhancer experimental_73373 [Gene]
  • LOC132089022:Neanderthal introgressed variant-containing enhancer experimental_73387 [Gene]
  • LOC132090712:Neanderthal introgressed variant-containing enhancer experimental_73515 [Gene]
  • LOC132089023:Neanderthal introgressed variant-containing enhancer experimental_73569 [Gene]
  • LOC132090713:Neanderthal introgressed variant-containing enhancer experimental_73803 [Gene]
  • LOC132089024:Neanderthal introgressed variant-containing enhancer experimental_73815 [Gene]
  • LOC132089025:Neanderthal introgressed variant-containing enhancer experimental_73859 [Gene]
  • LOC132089026:Neanderthal introgressed variant-containing enhancer experimental_73920 [Gene]
  • LOC132089027:Neanderthal introgressed variant-containing enhancer experimental_73968 [Gene]
  • LOC132090714:Neanderthal introgressed variant-containing enhancer experimental_73985 [Gene]
  • LOC132089028:Neanderthal introgressed variant-containing enhancer experimental_73994 [Gene]
  • LOC132089029:Neanderthal introgressed variant-containing enhancer experimental_74020 [Gene]
  • LOC132089030:Neanderthal introgressed variant-containing enhancer experimental_74071 [Gene]
  • LOC132089031:Neanderthal introgressed variant-containing enhancer experimental_74072 [Gene]
  • LOC132089032:Neanderthal introgressed variant-containing enhancer experimental_74204 [Gene]
  • LOC132089033:Neanderthal introgressed variant-containing enhancer experimental_74235 [Gene]
  • LOC132089034:Neanderthal introgressed variant-containing enhancer experimental_74251 [Gene]
  • LOC132089035:Neanderthal introgressed variant-containing enhancer experimental_74277 [Gene]
  • LOC132089036:Neanderthal introgressed variant-containing enhancer experimental_74389 [Gene]
  • LOC132089037:Neanderthal introgressed variant-containing enhancer experimental_74415 [Gene]
  • LOC132089038:Neanderthal introgressed variant-containing enhancer experimental_74418 [Gene]
  • LOC132089039:Neanderthal introgressed variant-containing enhancer experimental_74428 [Gene]
  • LOC132089040:Neanderthal introgressed variant-containing enhancer experimental_74530 [Gene]
  • LOC132089041:Neanderthal introgressed variant-containing enhancer experimental_74536 [Gene]
  • LOC126807150:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:127771052-127772251 [Gene]
  • LOC123480930:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 [Gene]
  • LOC126807157:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:131553588-131554787 [Gene]
  • LOC123480926:Sharpr-MPRA regulatory region 1143 [Gene]
  • LOC123480932:Sharpr-MPRA regulatory region 12082 [Gene]
  • LOC123480931:Sharpr-MPRA regulatory region 13521 [Gene]
  • LOC123480927:Sharpr-MPRA regulatory region 14356 [Gene]
  • LOC123480929:Sharpr-MPRA regulatory region 5357 [Gene]
  • LOC121725188:Sharpr-MPRA regulatory region 6093 [Gene]
  • LOC123480933:Sharpr-MPRA regulatory region 780 [Gene]
  • LOC123480928:Sharpr-MPRA regulatory region 9584 [Gene]
  • LOC110121089:VISTA enhancer hs1389 [Gene]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
  • LINC01256:long intergenic non-protein coding RNA 1256 [Gene - HGNC]
  • LINC02377:long intergenic non-protein coding RNA 2377 [Gene - HGNC]
  • LINC02379:long intergenic non-protein coding RNA 2379 [Gene - HGNC]
  • LINC02465:long intergenic non-protein coding RNA 2465 [Gene - HGNC]
  • LINC02466:long intergenic non-protein coding RNA 2466 [Gene - HGNC]
  • LINC02479:long intergenic non-protein coding RNA 2479 [Gene - HGNC]
  • LINC02615:long intergenic non-protein coding RNA 2615 [Gene - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • MIR2054:microRNA 2054 [Gene - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • PGRMC2:progesterone receptor membrane component 2 [Gene - OMIM - HGNC]
  • SNHG27:small nucleolar RNA host gene 27 [Gene - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
  • LOC101927259:uncharacterized LOC101927259 [Gene]
Variant type:
copy number loss
Cytogenetic location:
4q28.1-28.3
Genomic location:
Preferred name:
GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1
HGVS:
  • NC_000004.12:g.(?_125118620)_(132773079_?)del
  • NC_000004.10:g.(?_126259225)_(133913684_?)del
  • NC_000004.11:g.(?_126039775)_(133694234_?)del
Links:
dbVar: nssv585204; dbVar: nsv498490
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
SCV000174996GeneDx
no assertion criteria provided
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, SCV000174996.3

#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