NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs) AND DYRK1A-related intellectual disability syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 7, 2013
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:: RCV000191082.1

Allele description [Variation Report for NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)]

NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)

Gene:

DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

21q22.13

Genomic location:

Preferred name:

NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)

HGVS:

NC_000021.9:g.37496181dup
NG_009366.1:g.133625dup
NM_001347721.2:c.1135dupMANE SELECT
NM_001347722.2:c.1135dup
NM_001347723.2:c.1048dup
NM_001396.5:c.1162dup
NM_101395.2:c.1162dup
NM_130436.2:c.1135dup
NM_130438.2:c.1162dup
NP_001334650.1:p.Ala379fs
NP_001334651.1:p.Ala379fs
NP_001334652.1:p.Ala350fs
NP_001387.2:p.Ala388fs
NP_567824.1:p.Ala388fs
NP_569120.1:p.Ala379fs
NP_569122.1:p.Ala388fs
NC_000021.8:g.38868483dup
NM_001396.3:c.1162dupG

Protein change:

A350fs

Links:

dbSNP: rs797045042

NCBI 1000 Genomes Browser:

rs797045042

Molecular consequence:

NM_001347721.2:c.1135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347722.2:c.1135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347723.2:c.1048dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001396.5:c.1162dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_101395.2:c.1162dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130436.2:c.1135dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130438.2:c.1162dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: DYRK1A-related intellectual disability syndrome (MRD7)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Identifiers:: MONDO: MONDO:0013578; MedGen: C5568143; OMIM: 614104

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245478	Baylor Genetics - Adult_WES	criteria provided, single submitter (Yang et al. 2013)	Pathogenic (Nov 7, 2013)	paternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24088041, 26633545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245478

Baylor Genetics - Adult_WES

criteria provided, single submitter

(Yang et al. 2013)

Pathogenic
(Nov 7, 2013)

paternal

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Causasians	paternal	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, et al.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

PubMed [citation]

PMID:: 26633545
PMCID:: PMC4892996

Details of each submission

From Baylor Genetics - Adult_WES, SCV000245478.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	1	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

Description

This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in a 27-year-old male with intellectual disability, microcephaly, cataracts, epilepsy. Father was mosaic for the variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Aug 5, 2023

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