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NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) AND Complex neurodevelopmental disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2018
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:
RCV001265303.1

Allele description [Variation Report for NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)]

NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)

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.545_548del (p.Lys182fs)
HGVS:
  • NC_000021.9:g.37486522_37486525del
  • NG_009366.1:g.123966_123969del
  • NM_001347721.2:c.545_548delMANE SELECT
  • NM_001347722.2:c.545_548del
  • NM_001347723.2:c.458_461del
  • NM_001396.5:c.572_575del
  • NM_101395.2:c.572_575del
  • NM_130436.2:c.545_548del
  • NM_130438.2:c.572_575del
  • NP_001334650.1:p.Lys182fs
  • NP_001334651.1:p.Lys182fs
  • NP_001334652.1:p.Lys153fs
  • NP_001387.2:p.Lys191fs
  • NP_567824.1:p.Lys191fs
  • NP_569120.1:p.Lys182fs
  • NP_569122.1:p.Lys191fs
  • NC_000021.8:g.38858822_38858825del
  • NC_000021.8:g.38858824_38858827del
  • NM_001396.3:c.572_575del
  • NM_001396.3:c.572_575delAGAA
Protein change:
K153fs
Links:
dbSNP: rs1064796367
NCBI 1000 Genomes Browser:
rs1064796367
Molecular consequence:
  • NM_001347721.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001347722.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001347723.2:c.458_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001396.5:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_101395.2:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130436.2:c.545_548del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130438.2:c.572_575del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Complex neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0100038; MedGen: C5568766

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443420GenomeConnect - Simons Searchlight
no assertion criteria provided
Pathogenic
(Sep 10, 2018) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot provided2not providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedprovider interpretationnot provided
2not provided1not providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-10 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided
2de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024