GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051460.4

Allele description [Variation Report for GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3]

GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3

Genes:
  • FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
  • FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
  • FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
  • KIAA2013:KIAA2013 [Gene - HGNC]
  • NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
  • RNU5E-1:RNA, U5E small nuclear 1 [Gene - HGNC]
  • TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
  • TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
  • AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
  • C1orf158:chromosome 1 open reading frame 158 [Gene - HGNC]
  • C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
  • MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
  • MIR4632:microRNA 4632 [Gene - HGNC]
  • MIR6729:microRNA 6729 [Gene - HGNC]
  • MIR6730:microRNA 6730 [Gene - HGNC]
  • MIR7846:microRNA 7846 [Gene - HGNC]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
  • MFN2:mitofusin 2 [Gene - OMIM - HGNC]
  • MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
  • NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
  • NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
  • PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
  • SNORA59A:small nucleolar RNA, H/ACA box 59A [Gene - HGNC]
  • LOC102724659:uncharacterized LOC102724659 [Gene]
  • 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(chr1:11654070-12768656)x3
HGVS:
  • NC_000001.11:g.(?_11654070)_(12768656_?)dup
  • NC_000001.10:g.(?_11714127)_(12828807_?)dup
  • NC_000001.9:g.(?_11636714)_(12751394_?)dup
Links:
dbVar: nssv580692; dbVar: nsv529982
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
SCV000078808GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000078808.4

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

Last Updated: Mar 7, 2017