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NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter) AND Developmental delay with or without intellectual impairment or behavioral abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002246761.1

Allele description [Variation Report for NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)]

NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)

Gene:
TAOK1:TAO kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)
HGVS:
  • NC_000017.11:g.29482259G>A
  • NM_020791.4:c.626G>AMANE SELECT
  • NM_025142.1:c.626G>A
  • NP_065842.1:p.Trp209Ter
  • NP_079418.1:p.Trp209Ter
  • NC_000017.10:g.27809277G>A
Protein change:
W209*
Links:
dbSNP: rs2031080312
NCBI 1000 Genomes Browser:
rs2031080312
Molecular consequence:
  • NM_020791.4:c.626G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_025142.1:c.626G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Developmental delay with or without intellectual impairment or behavioral abnormalities
Identifiers:
MONDO: MONDO:0859199; MedGen: C5562004; OMIM: 619575

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002519846Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002519846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023