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GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3 AND See cases

Germline classification:
Uncertain significance (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:
RCV000140915.5

Allele description

GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3

Genes:
  • LOC130003944:ATAC-STARR-seq lymphoblastoid active region 3460 [Gene]
  • LOC130003945:ATAC-STARR-seq lymphoblastoid active region 3461 [Gene]
  • LOC130003946:ATAC-STARR-seq lymphoblastoid active region 3462 [Gene]
  • LOC130003943:ATAC-STARR-seq lymphoblastoid silent region 2418 [Gene]
  • LOC129390189:MPRA-validated peak989 silencer [Gene]
  • LOC129390190:MPRA-validated peak990 silencer [Gene]
  • LOC129390191:MPRA-validated peak991 silencer [Gene]
  • LOC132089829:Neanderthal introgressed variant-containing enhancer experimental_16132 [Gene]
  • LOC132089830:Neanderthal introgressed variant-containing enhancer experimental_16136 [Gene]
  • LOC132089831:Neanderthal introgressed variant-containing enhancer experimental_16144 [Gene]
  • LOC132089832:Neanderthal introgressed variant-containing enhancer experimental_16173 [Gene]
  • LOC132089833:Neanderthal introgressed variant-containing enhancer experimental_16197 [Gene]
  • LOC132090819:Neanderthal introgressed variant-containing enhancer experimental_16219 [Gene]
  • LOC132089834:Neanderthal introgressed variant-containing enhancer experimental_16253 [Gene]
  • LOC132089835:Neanderthal introgressed variant-containing enhancer experimental_16457 [Gene]
  • LOC132089836:Neanderthal introgressed variant-containing enhancer experimental_16478 [Gene]
  • LOC132089837:Neanderthal introgressed variant-containing enhancer experimental_16557 [Gene]
  • LOC111949323:Sharpr-MPRA regulatory region 82 [Gene]
  • ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
  • HNRNPH3:heterogeneous nuclear ribonucleoprotein H3 [Gene - OMIM - HGNC]
  • MYPN:myopalladin [Gene - OMIM - HGNC]
  • PBLD:phenazine biosynthesis like protein domain containing [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3
HGVS:
  • NC_000010.11:g.(?_68187812)_(68333410_?)dup
  • NC_000010.10:g.(?_69947569)_(70093167_?)dup
Links:
dbVar: nssv1610469; dbVar: nsv932277
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
SCV000181758ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 27, 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, SCV000181758.4

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

Last Updated: Oct 14, 2023