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NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 30, 2021
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:
RCV001728037.1

Allele description [Variation Report for NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)]

NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)

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.1303C>T (p.Arg435Ter)
HGVS:
  • NC_000017.11:g.29502688C>T
  • NM_020791.4:c.1303C>TMANE SELECT
  • NM_025142.1:c.1303C>T
  • NP_065842.1:p.Arg435Ter
  • NP_079418.1:p.Arg435Ter
  • NC_000017.10:g.27829706C>T
  • NM_020791.2:c.1303C>T
Protein change:
R435*
Links:
dbSNP: rs2153028697
NCBI 1000 Genomes Browser:
rs2153028697
Molecular consequence:
  • NM_020791.4:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_025142.1:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Macroglossia
Synonyms:
Enlarged tongue; Giant tongue
Identifiers:
MONDO: MONDO:0015496; MedGen: C0024421; Human Phenotype Ontology: HP:0000158
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Short 5th finger
Identifiers:
MedGen: C1842878; Human Phenotype Ontology: HP:0009237
Name:
Abnormality of the face
Identifiers:
MedGen: C4025871; Human Phenotype Ontology: HP:0000271

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001976422Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001976422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

_x000D_ Criteria applied: PVS1, PM2_SUP

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

Last Updated: Oct 8, 2024