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NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 8, 2016
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:
RCV000478835.1

Allele description [Variation Report for NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro)]

NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro)

Gene:
DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.13
Genomic location:
Preferred name:
NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro)
HGVS:
  • NC_000021.9:g.37490339G>C
  • NG_009366.1:g.127783G>C
  • NM_001347721.2:c.802G>CMANE SELECT
  • NM_001347722.2:c.802G>C
  • NM_001347723.2:c.715G>C
  • NM_001396.5:c.829G>C
  • NM_101395.2:c.829G>C
  • NM_130436.2:c.802G>C
  • NM_130438.2:c.829G>C
  • NP_001334650.1:p.Ala268Pro
  • NP_001334651.1:p.Ala268Pro
  • NP_001334652.1:p.Ala239Pro
  • NP_001387.2:p.Ala277Pro
  • NP_567824.1:p.Ala277Pro
  • NP_569120.1:p.Ala268Pro
  • NP_569122.1:p.Ala277Pro
  • NC_000021.8:g.38862641G>C
  • NM_001396.3:c.829G>C
Protein change:
A239P
Links:
dbSNP: rs1064795422
NCBI 1000 Genomes Browser:
rs1064795422
Molecular consequence:
  • NM_001347721.2:c.802G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347722.2:c.802G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347723.2:c.715G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001396.5:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_101395.2:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130436.2:c.802G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130438.2:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000571206GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 8, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000571206.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The A277P variant in the DYRK1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A277P variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A277P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The A277P variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Apr 23, 2022