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GRCh38/hg38 17q12(chr17:39036037-39694679)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 4, 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:
RCV000140753.6

Allele description [Variation Report for GRCh38/hg38 17q12(chr17:39036037-39694679)x3]

GRCh38/hg38 17q12(chr17:39036037-39694679)x3

Genes:
  • ARL5C:ADP ribosylation factor like GTPase 5C [Gene - HGNC]
  • LOC130060745:ATAC-STARR-seq lymphoblastoid active region 12086 [Gene]
  • LOC130060746:ATAC-STARR-seq lymphoblastoid active region 12087 [Gene]
  • LOC130060747:ATAC-STARR-seq lymphoblastoid active region 12088 [Gene]
  • LOC130060748:ATAC-STARR-seq lymphoblastoid active region 12089 [Gene]
  • LOC130060749:ATAC-STARR-seq lymphoblastoid active region 12090 [Gene]
  • LOC130060753:ATAC-STARR-seq lymphoblastoid active region 12091 [Gene]
  • LOC130060754:ATAC-STARR-seq lymphoblastoid active region 12092 [Gene]
  • LOC130060760:ATAC-STARR-seq lymphoblastoid active region 12097 [Gene]
  • LOC130060761:ATAC-STARR-seq lymphoblastoid active region 12098 [Gene]
  • LOC130060764:ATAC-STARR-seq lymphoblastoid active region 12099 [Gene]
  • LOC130060766:ATAC-STARR-seq lymphoblastoid active region 12100 [Gene]
  • LOC130060768:ATAC-STARR-seq lymphoblastoid active region 12101 [Gene]
  • LOC130060769:ATAC-STARR-seq lymphoblastoid active region 12103 [Gene]
  • LOC130060744:ATAC-STARR-seq lymphoblastoid silent region 8447 [Gene]
  • LOC130060750:ATAC-STARR-seq lymphoblastoid silent region 8449 [Gene]
  • LOC130060751:ATAC-STARR-seq lymphoblastoid silent region 8450 [Gene]
  • LOC130060752:ATAC-STARR-seq lymphoblastoid silent region 8451 [Gene]
  • LOC130060755:ATAC-STARR-seq lymphoblastoid silent region 8453 [Gene]
  • LOC130060756:ATAC-STARR-seq lymphoblastoid silent region 8454 [Gene]
  • LOC130060757:ATAC-STARR-seq lymphoblastoid silent region 8455 [Gene]
  • LOC130060758:ATAC-STARR-seq lymphoblastoid silent region 8456 [Gene]
  • LOC130060759:ATAC-STARR-seq lymphoblastoid silent region 8457 [Gene]
  • LOC130060762:ATAC-STARR-seq lymphoblastoid silent region 8458 [Gene]
  • LOC130060763:ATAC-STARR-seq lymphoblastoid silent region 8459 [Gene]
  • LOC130060765:ATAC-STARR-seq lymphoblastoid silent region 8460 [Gene]
  • LOC130060767:ATAC-STARR-seq lymphoblastoid silent region 8461 [Gene]
  • LOC126862553:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:37618166-37619365 [Gene]
  • FBXL20:F-box and leucine rich repeat protein 20 [Gene - OMIM - HGNC]
  • LOC126862552:MED14-independent group 3 enhancer GRCh37_chr17:37202329-37203528 [Gene]
  • LOC129390868:MPRA-validated peak2833 silencer [Gene]
  • LOC129390869:MPRA-validated peak2834 silencer [Gene]
  • STAC2:SH3 and cysteine rich domain 2 [Gene - HGNC]
  • LOC121587590:Sharpr-MPRA regulatory region 12086 [Gene]
  • LOC125177467:Sharpr-MPRA regulatory region 1854 [Gene]
  • STARD3:StAR related lipid transfer domain containing 3 [Gene - OMIM - HGNC]
  • LOC110121446:VISTA enhancer hs1769 [Gene]
  • LOC110120913:VISTA enhancer hs627 [Gene]
  • CACNB1:calcium voltage-gated channel auxiliary subunit beta 1 [Gene - OMIM - HGNC]
  • CDK12:cyclin dependent kinase 12 [Gene - OMIM - HGNC]
  • ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • MED1:mediator complex subunit 1 [Gene - OMIM - HGNC]
  • MIR548BC:microRNA 548BC [Gene - HGNC]
  • NEUROD2:neuronal differentiation 2 [Gene - OMIM - HGNC]
  • PNMT:phenylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PLXDC1:plexin domain containing 1 [Gene - OMIM - HGNC]
  • PGAP3:post-GPI attachment to proteins phospholipase 3 [Gene - OMIM - HGNC]
  • PPP1R1B:protein phosphatase 1 regulatory inhibitor subunit 1B [Gene - OMIM - HGNC]
  • RPL19:ribosomal protein L19 [Gene - OMIM - HGNC]
  • TRC-GCA2-3:tRNA-Cys (anticodon GCA) 2-3 [Gene - HGNC]
  • TRC-GCA2-4:tRNA-Cys (anticodon GCA) 2-4 [Gene - HGNC]
  • TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q12
Genomic location:
Preferred name:
GRCh38/hg38 17q12(chr17:39036037-39694679)x3
HGVS:
  • NC_000017.11:g.(?_39036037)_(39694679_?)dup
  • NC_000017.10:g.(?_37192290)_(37850932_?)dup
  • NC_000017.9:g.(?_34445816)_(35104458_?)dup
Links:
dbVar: nssv1610207; dbVar: nsv932024
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
SCV000181507ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Apr 4, 2013) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000181507.4

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

Last Updated: May 7, 2024