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NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 19, 2017
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:
RCV000494339.1

Allele description

NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)

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.127C>T (p.Arg43Cys)
HGVS:
  • NC_000021.9:g.37472800C>T
  • NG_009366.1:g.110244C>T
  • NM_001347721.2:c.127C>TMANE SELECT
  • NM_001347722.2:c.127C>T
  • NM_001347723.1:c.40C>T
  • NM_001396.4:c.127C>T
  • NM_101395.2:c.127C>T
  • NM_130436.2:c.127C>T
  • NM_130438.2:c.127C>T
  • NP_001334650.1:p.Arg43Cys
  • NP_001334651.1:p.Arg43Cys
  • NP_001334652.1:p.Arg14Cys
  • NP_001387.2:p.Arg43Cys
  • NP_567824.1:p.Arg43Cys
  • NP_569120.1:p.Arg43Cys
  • NP_569122.1:p.Arg43Cys
  • NC_000021.8:g.38845102C>T
  • NM_001396.3:c.127C>T
Protein change:
R14C
Links:
dbSNP: rs367984873
NCBI 1000 Genomes Browser:
rs367984873
Molecular consequence:
  • NM_001347721.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347722.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347723.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001396.4:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_101395.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130436.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130438.2:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583064GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 19, 2017) 		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, SCV000583064.3

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

Description

A variant of uncertain significance has been identified in the DYRK1A gene. The R43C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R43C variant is observed in 4/16505 (0.02%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R43C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with DYRK1A- related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 22, 2021