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GRCh38/hg38 3q29(chr3:195537024-195730806)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000138633.5

Allele description [Variation Report for GRCh38/hg38 3q29(chr3:195537024-195730806)x3]

GRCh38/hg38 3q29(chr3:195537024-195730806)x3

Genes:
  • LOC129938241:ATAC-STARR-seq lymphoblastoid active region 21056 [Gene]
  • LOC129938242:ATAC-STARR-seq lymphoblastoid active region 21057 [Gene]
  • LOC129938244:ATAC-STARR-seq lymphoblastoid active region 21058 [Gene]
  • LOC129938243:ATAC-STARR-seq lymphoblastoid silent region 15039 [Gene]
  • LOC129938245:ATAC-STARR-seq lymphoblastoid silent region 15040 [Gene]
  • MIR570HG:MIR570 host gene [Gene - HGNC]
  • LOC132088916:Neanderthal introgressed variant-containing enhancer experimental_67527 [Gene]
  • LOC132090703:Neanderthal introgressed variant-containing enhancer experimental_67528 [Gene]
  • LOC132088917:Neanderthal introgressed variant-containing enhancer experimental_67532 [Gene]
  • APOD:apolipoprotein D [Gene - OMIM - HGNC]
  • MIR570:microRNA 570 [Gene - OMIM - HGNC]
  • MUC20:mucin 20, cell surface associated [Gene - OMIM - HGNC]
  • PPP1R2:protein phosphatase 1 regulatory inhibitor subunit 2 [Gene - OMIM - HGNC]
  • LOC105374297:uncharacterized LOC105374297 [Gene]
Variant type:
copy number gain
Cytogenetic location:
3q29
Genomic location:
Preferred name:
GRCh38/hg38 3q29(chr3:195537024-195730806)x3
HGVS:
  • NC_000003.12:g.(?_195537024)_(195730806_?)dup
  • NC_000003.10:g.(?_196745113)_(196943348_?)dup
  • NC_000003.11:g.(?_195263824)_(195457677_?)dup
Links:
dbVar: nssv1601810; dbVar: nsv915895
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
SCV000179002ISCA site 4

See additional submitters

no assertion criteria provided
Likely benign
(Sep 21, 2012) 		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 4, SCV000179002.3

#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