GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Sep 27, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000141874.4

Allele description [Variation Report for GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3]

GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3

Genes:
  • LOC111591499:NFE2L2 motif-containing MPRA enhancer 265 [Gene]
  • PRAMEF10:PRAME family member 10 [Gene - HGNC]
  • PRAMEF11:PRAME family member 11 [Gene - HGNC]
  • PRAMEF12:PRAME family member 12 [Gene - HGNC]
  • PRAMEF1:PRAME family member 1 [Gene - HGNC]
  • PRAMEF25:PRAME family member 25 [Gene - HGNC]
  • PRAMEF27:PRAME family member 27 [Gene - HGNC]
  • PRAMEF2:PRAME family member 2 [Gene - HGNC]
  • PRAMEF4:PRAME family member 4 [Gene - HGNC]
  • PRAMEF6:PRAME family member 6 [Gene - HGNC]
  • PRAMEF7:PRAME family member 7 [Gene - HGNC]
  • LOC112577487:Sharpr-MPRA regulatory region 4366 [Gene]
  • LOC112577488:Sharpr-MPRA regulatory region 5682 [Gene]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • C1orf158:chromosome 1 open reading frame 158 [Gene - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • HNRNPCL1:heterogeneous nuclear ribonucleoprotein C like 1 [Gene - HGNC]
  • HNRNPCL2:heterogeneous nuclear ribonucleoprotein C like 2 [Gene - HGNC]
  • HNRNPCL3:heterogeneous nuclear ribonucleoprotein C like 3 [Gene - HGNC]
  • LINC01784:long intergenic non-protein coding RNA 1784 [Gene - HGNC]
  • LINC02766:long intergenic non-protein coding RNA 2766 [Gene - HGNC]
  • MIR6730:microRNA 6730 [Gene - HGNC]
  • SNORA59A:small nucleolar RNA, H/ACA box 59A [Gene - HGNC]
  • VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p36.22-36.21
Genomic location:
Preferred name:
GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3
HGVS:
  • NC_000001.11:g.(?_12264268)_(13119398_?)dup
  • NC_000001.10:g.(?_12324325)_(13186871_?)dup
Links:
dbVar: nssv3397104; dbVar: nsv995510
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000182933ISCA site 1

See additional submitters

no assertion criteria providedUncertain significance
(Sep 27, 2013)
maternalclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000182933

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000182933

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, SCV000182933.4

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

Last Updated: Dec 17, 2019

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