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NM_001347721.2(DYRK1A):c.1644+73C>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 22, 2016
Accession:
VCV000287962.1
Variation ID:
287962
Description:
single nucleotide variant
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NM_001347721.2(DYRK1A):c.1644+73C>A

Allele ID
272199
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 37506296 (GRCh38) GRCh38 UCSC
21: 38878599 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38878599C>A
NC_000021.9:g.37506296C>A
NM_101395.2:c.1744C>A NP_567824.1:p.Pro582Thr missense
... more HGVS
Protein change
P582T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00017
The Genome Aggregation Database (gnomAD) 0.00067
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
Trans-Omics for Precision Medicine (TOPMed) 0.00063
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00030
Links
ClinGen: CA10024047
dbSNP: rs200322053
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 22, 2016 RCV000337264.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYRK1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
296 361

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 22, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000341929.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DYRK1A - - - -

Record last updated Nov 01, 2019