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NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) AND CDK19-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2019
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:
RCV001255605.2

Allele description [Variation Report for NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)]

NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)

Gene:
CDK19:cyclin dependent kinase 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)
HGVS:
  • NC_000006.12:g.110632090T>C
  • NM_001300960.2:c.515-4945A>G
  • NM_001300963.2:c.406A>G
  • NM_001300964.2:c.406A>G
  • NM_015076.3:c.586A>G
  • NM_015076.5:c.586A>GMANE SELECT
  • NP_001287892.1:p.Thr136Ala
  • NP_001287893.1:p.Thr136Ala
  • NP_055891.1:p.Thr196Ala
  • NC_000006.11:g.110953293T>C
  • NM_015076.4:c.586A>G
  • p.T196A
Protein change:
T136A; THR196ALA
Links:
OMIM: 614720.0001; dbSNP: rs1779473650
NCBI 1000 Genomes Browser:
rs1779473650
Molecular consequence:
  • NM_001300960.2:c.515-4945A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300963.2:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300964.2:c.406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015076.5:c.586A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
CDK19-related disorder
Synonyms:
CDK19-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432131Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 25, 2019)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network., Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B.

Am J Hum Genet. 2020 May 7;106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23.

PubMed [citation]
PMID:
32330417
PMCID:
PMC7212481

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001432131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (2)

Description

This individual has been published in PMID: 32330417.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot provided1not provided1not provided

Last Updated: May 19, 2024