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GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000140255.6

Allele description [Variation Report for GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3]

GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3

Genes:
  • LOC130001391:ATAC-STARR-seq lymphoblastoid active region 28096 [Gene]
  • LOC130001394:ATAC-STARR-seq lymphoblastoid active region 28097 [Gene]
  • LOC130001397:ATAC-STARR-seq lymphoblastoid active region 28098 [Gene]
  • LOC130001408:ATAC-STARR-seq lymphoblastoid active region 28100 [Gene]
  • LOC130001409:ATAC-STARR-seq lymphoblastoid active region 28101 [Gene]
  • LOC130001387:ATAC-STARR-seq lymphoblastoid silent region 19675 [Gene]
  • LOC130001388:ATAC-STARR-seq lymphoblastoid silent region 19676 [Gene]
  • LOC130001389:ATAC-STARR-seq lymphoblastoid silent region 19677 [Gene]
  • LOC130001390:ATAC-STARR-seq lymphoblastoid silent region 19678 [Gene]
  • LOC130001392:ATAC-STARR-seq lymphoblastoid silent region 19679 [Gene]
  • LOC130001393:ATAC-STARR-seq lymphoblastoid silent region 19680 [Gene]
  • LOC130001395:ATAC-STARR-seq lymphoblastoid silent region 19681 [Gene]
  • LOC130001396:ATAC-STARR-seq lymphoblastoid silent region 19682 [Gene]
  • LOC130001398:ATAC-STARR-seq lymphoblastoid silent region 19684 [Gene]
  • LOC130001399:ATAC-STARR-seq lymphoblastoid silent region 19685 [Gene]
  • LOC130001400:ATAC-STARR-seq lymphoblastoid silent region 19686 [Gene]
  • LOC130001401:ATAC-STARR-seq lymphoblastoid silent region 19689 [Gene]
  • LOC130001402:ATAC-STARR-seq lymphoblastoid silent region 19690 [Gene]
  • LOC130001403:ATAC-STARR-seq lymphoblastoid silent region 19691 [Gene]
  • LOC130001404:ATAC-STARR-seq lymphoblastoid silent region 19692 [Gene]
  • LOC130001405:ATAC-STARR-seq lymphoblastoid silent region 19695 [Gene]
  • LOC130001406:ATAC-STARR-seq lymphoblastoid silent region 19696 [Gene]
  • LOC130001407:ATAC-STARR-seq lymphoblastoid silent region 19697 [Gene]
  • LOC130001410:ATAC-STARR-seq lymphoblastoid silent region 19698 [Gene]
  • LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [Gene]
  • LOC130001412:ATAC-STARR-seq lymphoblastoid silent region 19700 [Gene]
  • LOC130001413:ATAC-STARR-seq lymphoblastoid silent region 19702 [Gene]
  • LOC130001414:ATAC-STARR-seq lymphoblastoid silent region 19706 [Gene]
  • LOC130001415:ATAC-STARR-seq lymphoblastoid silent region 19707 [Gene]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • LOC126860550:MED14-independent group 3 enhancer GRCh37_chr8:145795054-145796253 [Gene]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • LOC124188250:Sharpr-MPRA regulatory region 11949 [Gene]
  • LOC124188249:Sharpr-MPRA regulatory region 2015 [Gene]
  • TMEM276-ZFTRAF1:TMEM276-ZFTRAF1 readthrough [Gene - HGNC]
  • TONSL-AS1:TONSL antisense RNA 1 [Gene - HGNC]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MIR10400:microRNA 10400 [Gene - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR6849:microRNA 6849 [Gene - HGNC]
  • MIR6893:microRNA 6893 [Gene - HGNC]
  • MIR939:microRNA 939 [Gene - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • TMEM276:transmembrane protein 276 [Gene - HGNC]
  • LOC101928902:uncharacterized LOC101928902 [Gene]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3
HGVS:
  • NC_000008.11:g.(?_144340449)_(144585787_?)dup
  • NC_000008.10:g.(?_145564111)_(145811171_?)dup
Links:
dbVar: nssv1609401; dbVar: nsv931436
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
SCV000180935ISCA Site 6

See additional submitters

no assertion criteria provided
Likely benign
(Apr 30, 2011) 		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 6, SCV000180935.3

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

Last Updated: May 7, 2024