NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) AND Mental retardation, autosomal dominant 7

Clinical significance:Benign (Last evaluated: Nov 22, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001080736.2

Allele description [Variation Report for NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)]

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

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.2008G>C (p.Ala670Pro)
HGVS:
  • NC_000021.9:g.37512274G>C
  • NG_009366.1:g.149719G>C
  • NM_001347721.2:c.2008G>CMANE SELECT
  • NM_001347722.2:c.2008G>C
  • NM_001347723.1:c.1921G>C
  • NM_001396.4:c.2035G>C
  • NM_101395.2:c.*411G>C
  • NM_130436.2:c.2008G>C
  • NM_130438.2:c.*320G>C
  • NP_001334650.1:p.Ala670Pro
  • NP_001334651.1:p.Ala670Pro
  • NP_001334652.1:p.Ala641Pro
  • NP_001387.2:p.Ala679Pro
  • NP_569120.1:p.Ala670Pro
  • NC_000021.8:g.38884577G>C
  • NM_001396.3:c.2035G>C
  • Q13627:p.Ala679Pro
Protein change:
A641P
Links:
UniProtKB: Q13627#VAR_040453; dbSNP: rs55720916
NCBI 1000 Genomes Browser:
rs55720916
Molecular consequence:
  • NM_101395.2:c.*411G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130438.2:c.*320G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001347721.2:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347722.2:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347723.1:c.1921G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001396.4:c.2035G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130436.2:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, autosomal dominant 7 (MRD7)
Synonyms:
DYRK1A-Related Intellectual Disability Syndrome
Identifiers:
MONDO: MONDO:0013578; MedGen: C3279839; OMIM: 614104

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000651259Invitaecriteria provided, single submitter
Benign
(Nov 22, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000651259.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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