NM_013254.4(TBK1):c.229-4dup AND Glaucoma 1, open angle, P

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 30, 2015
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:: RCV000625058.6

Allele description [Variation Report for NM_013254.4(TBK1):c.229-4dup]

NM_013254.4(TBK1):c.229-4dup

Gene:

TBK1:TANK binding kinase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q14.2

Genomic location:

Preferred name:

NM_013254.4(TBK1):c.229-4dup

HGVS:

NC_000012.12:g.64464330dup
NG_046906.1:g.17271dup
NM_013254.4:c.229-4dupMANE SELECT
LRG_1306t1:c.229-4dup
LRG_1306:g.17271dup
NC_000012.11:g.64858100_64858101insT
NC_000012.11:g.64858110dup
NM_013254.3:c.229-4dupT

Links:

dbSNP: rs57810028

NCBI 1000 Genomes Browser:

rs57810028

Molecular consequence:

NM_013254.4:c.229-4dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Glaucoma 1, open angle, P
Identifiers:: Gene: 101448070; MONDO: MONDO:0008328; MedGen: C3888338; OMIM: 177700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743634	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Jul 30, 2015)	germline	clinical testing	Citation Link,
SCV000745751	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided (ACGS Guidelines, 2013)	Benign (Apr 22, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743634

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Jul 30, 2015)

germline

clinical testing

Citation Link,

SCV000745751

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

(ACGS Guidelines, 2013)

Benign
(Apr 22, 2016)

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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743634.1

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

#	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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745751.1

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

#	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: Mar 10, 2024

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