NM_020791.4(TAOK1):c.2253_2256del (p.Glu752fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 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:: RCV001767783.3

Allele description [Variation Report for NM_020791.4(TAOK1):c.2253_2256del (p.Glu752fs)]

NM_020791.4(TAOK1):c.2253_2256del (p.Glu752fs)

Gene:

TAOK1:TAO kinase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_020791.4(TAOK1):c.2253_2256del (p.Glu752fs)

HGVS:

NC_000017.11:g.29530511_29530514del
NM_020791.4:c.2253_2256delMANE SELECT
NM_025142.1:c.1809_1812del
NP_065842.1:p.Glu752fs
NP_079418.1:p.Glu604fs
NC_000017.10:g.27857529_27857532del
NM_020791.2:c.2253_2256del

Protein change:

E604fs

Links:

dbSNP: rs2150772089

NCBI 1000 Genomes Browser:

rs2150772089

Molecular consequence:

NM_020791.4:c.2253_2256del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_025142.1:c.1809_1812del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001999577	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001999577

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 10, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001999577.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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