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NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000210893.9
Variation ID:
210893
Description:
single nucleotide variant
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NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)

Allele ID
208721
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 37512274 (GRCh38) GRCh38 UCSC
21: 38884577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q13627:p.Ala679Pro
NC_000021.8:g.38884577G>C
NC_000021.9:g.37512274G>C
... more HGVS
Protein change
A679P, A670P, A641P
Other names
-
Canonical SPDI
NC_000021.9:37512273:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00401
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00446
Trans-Omics for Precision Medicine (TOPMed) 0.00491
1000 Genomes Project 0.00120
Links
ClinGen: CA206632
UniProtKB: Q13627#VAR_040453
dbSNP: rs55720916
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 14, 2018 RCV000224108.6
Benign 1 criteria provided, single submitter Apr 29, 2014 RCV000193270.1
Benign 1 criteria provided, single submitter Apr 15, 2016 RCV000718297.1
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV001080736.2
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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
517 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 29, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000247235.1
Submitted: (Sep 15, 2015)
Evidence details
Likely Benign
(May 19, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281122.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841891.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Apr 15, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849159.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Nov 22, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 7
Allele origin: germline
Invitae
Accession: SCV000651259.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001860213.1
Submitted: (Sep 13, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs55720916...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021