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NC_000021.8:g.(?_32439271)_(39212984_?)dup AND DYRK1A-related intellectual disability syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003107882.10

Allele description [Variation Report for NC_000021.8:g.(?_32439271)_(39212984_?)dup]

NC_000021.8:g.(?_32439271)_(39212984_?)dup

Genes:
  • ATP5PO:ATP synthase peripheral stalk subunit OSCP [Gene - OMIM - HGNC]
  • DONSON:DNA replication fork stabilization factor DONSON [Gene - OMIM - HGNC]
  • DOP1B:DOP1 leucine zipper like protein B [Gene - OMIM - HGNC]
  • DNAJC28:DnaJ heat shock protein family (Hsp40) member C28 [Gene - HGNC]
  • MIS18A:MIS18 kinetochore protein A [Gene - OMIM - HGNC]
  • MORC3:MORC family CW-type zinc finger 3 [Gene - OMIM - HGNC]
  • PAXBP1:PAX3 and PAX7 binding protein 1 [Gene - OMIM - HGNC]
  • RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
  • SETD4:SET domain containing 4 [Gene - HGNC]
  • SIM2:SIM bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • SON:SON DNA and RNA binding protein [Gene - OMIM - HGNC]
  • SCAF4:SR-related CTD associated factor 4 [Gene - OMIM - HGNC]
  • TIAM1:TIAM Rac1 associated GEF 1 [Gene - OMIM - HGNC]
  • URB1:URB1 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • VPS26C:VPS26 endosomal protein sorting factor C [Gene - OMIM - HGNC]
  • CBR1:carbonyl reductase 1 [Gene - OMIM - HGNC]
  • CBR3:carbonyl reductase 3 [Gene - OMIM - HGNC]
  • CLIC6:chloride intracellular channel 6 [Gene - OMIM - HGNC]
  • CHAF1B:chromatin assembly factor 1 subunit B [Gene - OMIM - HGNC]
  • CFAP298:cilia and flagella associated protein 298 [Gene - OMIM - HGNC]
  • CLDN14:claudin 14 [Gene - OMIM - HGNC]
  • CRYZL1:crystallin zeta like 1 [Gene - OMIM - HGNC]
  • DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
  • EVA1C:eva-1 homolog C [Gene - HGNC]
  • EPCIP:exosomal polycystin 1 interacting protein [Gene - HGNC]
  • HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
  • HUNK:hormonally up-regulated Neu-associated kinase [Gene - OMIM - HGNC]
  • IFNAR1:interferon alpha and beta receptor subunit 1 [Gene - OMIM - HGNC]
  • IFNAR2:interferon alpha and beta receptor subunit 2 [Gene - OMIM - HGNC]
  • IFNGR2:interferon gamma receptor 2 [Gene - OMIM - HGNC]
  • IL10RB:interleukin 10 receptor subunit beta [Gene - OMIM - HGNC]
  • ITSN1:intersectin 1 [Gene - OMIM - HGNC]
  • MRAP:melanocortin 2 receptor accessory protein [Gene - OMIM - HGNC]
  • MRPS6:mitochondrial ribosomal protein S6 [Gene - OMIM - HGNC]
  • OLIG1:oligodendrocyte transcription factor 1 [Gene - OMIM - HGNC]
  • OLIG2:oligodendrocyte transcription factor 2 [Gene - OMIM - HGNC]
  • PIGP:phosphatidylinositol glycan anchor biosynthesis class P [Gene - OMIM - HGNC]
  • GART:phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [Gene - OMIM - HGNC]
  • KCNJ6:potassium inwardly rectifying channel subfamily J member 6 [Gene - OMIM - HGNC]
  • KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
  • KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
  • RCAN1:regulator of calcineurin 1 [Gene - OMIM - HGNC]
  • RIPPLY3:ripply transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SMIM11:small integral membrane protein 11 [Gene - HGNC]
  • SLC5A3:solute carrier family 5 member 3 [Gene - OMIM - HGNC]
  • SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]
  • SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]
  • TCP10L:t-complex 10 like [Gene - OMIM - HGNC]
  • TTC3:tetratricopeptide repeat domain 3 [Gene - OMIM - HGNC]
  • TMEM50B:transmembrane protein 50B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
21q22.11-22.13
Genomic location:
Chr21: 32439271 - 39212984 (on Assembly GRCh37)
Preferred name:
NC_000021.8:g.(?_32439271)_(39212984_?)dup
HGVS:
NC_000021.8:g.(?_32439271)_(39212984_?)dup

Condition(s)

Name:
DYRK1A-related intellectual disability syndrome (MRD7)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Identifiers:
MONDO: MONDO:0013578; MedGen: C5568143; OMIM: 614104

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003793571Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 27, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

Ronan A, Fagan K, Christie L, Conroy J, Nowak NJ, Turner G.

J Med Genet. 2007 Jul;44(7):448-51. Epub 2007 Jan 19.

PubMed [citation]
PMID:
17237124
PMCID:
PMC2598003

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

Laguna A, Barallobre MJ, Marchena MÁ, Mateus C, Ramírez E, Martínez-Cue C, Delabar JM, Castelo-Branco M, de la Villa P, Arbonés ML.

Hum Mol Genet. 2013 Jul 15;22(14):2775-84. doi: 10.1093/hmg/ddt125. Epub 2013 Mar 19.

PubMed [citation]
PMID:
23512985
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003793571.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

A copy number gain of the genomic region encompassing the full coding sequence of the DYRK1A gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene copy number gains of DYRK1A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 17237124, 23512985). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024