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GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 2013
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:
RCV000140458.6

Allele description [Variation Report for GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1]

GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1

Genes:
  • LOC130061360:ATAC-STARR-seq lymphoblastoid active region 12535 [Gene]
  • LOC130061361:ATAC-STARR-seq lymphoblastoid active region 12536 [Gene]
  • LOC130061363:ATAC-STARR-seq lymphoblastoid active region 12537 [Gene]
  • LOC130061365:ATAC-STARR-seq lymphoblastoid active region 12538 [Gene]
  • LOC130061371:ATAC-STARR-seq lymphoblastoid active region 12540 [Gene]
  • LOC130061376:ATAC-STARR-seq lymphoblastoid active region 12542 [Gene]
  • LOC130061377:ATAC-STARR-seq lymphoblastoid active region 12543 [Gene]
  • LOC130061362:ATAC-STARR-seq lymphoblastoid silent region 8802 [Gene]
  • LOC130061364:ATAC-STARR-seq lymphoblastoid silent region 8803 [Gene]
  • LOC130061366:ATAC-STARR-seq lymphoblastoid silent region 8804 [Gene]
  • LOC130061367:ATAC-STARR-seq lymphoblastoid silent region 8805 [Gene]
  • LOC130061368:ATAC-STARR-seq lymphoblastoid silent region 8806 [Gene]
  • LOC130061369:ATAC-STARR-seq lymphoblastoid silent region 8807 [Gene]
  • LOC130061370:ATAC-STARR-seq lymphoblastoid silent region 8808 [Gene]
  • LOC130061372:ATAC-STARR-seq lymphoblastoid silent region 8809 [Gene]
  • LOC130061373:ATAC-STARR-seq lymphoblastoid silent region 8810 [Gene]
  • LOC130061374:ATAC-STARR-seq lymphoblastoid silent region 8811 [Gene]
  • LOC130061375:ATAC-STARR-seq lymphoblastoid silent region 8812 [Gene]
  • LOC130061378:ATAC-STARR-seq lymphoblastoid silent region 8813 [Gene]
  • LOC130061379:ATAC-STARR-seq lymphoblastoid silent region 8814 [Gene]
  • BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
  • LOC126862611:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:60642433-60643632 [Gene]
  • EFCAB3:EF-hand calcium binding domain 3 [Gene - OMIM - HGNC]
  • MARCHF10-DT:MARCHF10 divergent transcript [Gene - HGNC]
  • LOC126862612:MED14-independent group 3 enhancer GRCh37_chr17:61259160-61260359 [Gene]
  • LOC129390909:MPRA-validated peak2933 silencer [Gene]
  • LOC129390910:MPRA-validated peak2934 silencer [Gene]
  • LOC129390911:MPRA-validated peak2935 silencer [Gene]
  • LOC125312415:Sharpr-MPRA regulatory region 13093 [Gene]
  • LOC125177527:Sharpr-MPRA regulatory region 5505 [Gene]
  • LOC121852941:Sharpr-MPRA regulatory region 7395 [Gene]
  • LOC110120932:VISTA enhancer hs778 [Gene]
  • INTS2:integrator complex subunit 2 [Gene - OMIM - HGNC]
  • MRC2:mannose receptor C-type 2 [Gene - OMIM - HGNC]
  • MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
  • MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
  • METTL2A:methyltransferase 2A, tRNA N3-cytidine [Gene - OMIM - HGNC]
  • MIR633:microRNA 633 [Gene - HGNC]
  • TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
  • TLK2:tousled like kinase 2 [Gene - OMIM - HGNC]
  • LOC105371855:uncharacterized LOC105371855 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17q23.2-23.3
Genomic location:
Preferred name:
GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1
HGVS:
  • NC_000017.11:g.(?_61631101)_(63219455_?)del
  • NC_000017.10:g.(?_59708462)_(61296816_?)del
  • NC_000017.9:g.(?_57063244)_(58650548_?)del
Links:
dbVar: nssv1609707; dbVar: nsv931662
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
SCV000181159ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Sep 27, 2013) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000181159.4

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

Last Updated: May 7, 2024