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NM_001347721.2(DYRK1A):c.490-16_490-13del AND DYRK1A-related intellectual disability syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 14, 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:
RCV003042446.3

Allele description [Variation Report for NM_001347721.2(DYRK1A):c.490-16_490-13del]

NM_001347721.2(DYRK1A):c.490-16_490-13del

Gene:
DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001347721.2(DYRK1A):c.490-16_490-13del
HGVS:
  • NC_000021.9:g.37486451_37486454del
  • NG_009366.1:g.123895_123898del
  • NG_009366.2:g.125880_125883del
  • NM_001347721.2:c.490-16_490-13delMANE SELECT
  • NM_001347722.2:c.490-16_490-13del
  • NM_001347723.2:c.403-16_403-13del
  • NM_001396.5:c.517-16_517-13del
  • NM_101395.2:c.517-16_517-13del
  • NM_130436.2:c.490-16_490-13del
  • NM_130438.2:c.517-16_517-13del
  • NC_000021.8:g.38858751_38858754del
  • NC_000021.8:g.38858753_38858756del
Molecular consequence:
  • NM_001347721.2:c.490-16_490-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347722.2:c.490-16_490-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347723.2:c.403-16_403-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001396.5:c.517-16_517-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_101395.2:c.517-16_517-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130436.2:c.490-16_490-13del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130438.2:c.517-16_517-13del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003328074Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Mar 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003328074.2

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

Last Updated: Sep 29, 2024