NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Nov 12, 2018
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:: RCV001579432.4

Allele description [Variation Report for NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)]

NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)

Gene:

KBTBD13:kelch repeat and BTB domain containing 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)

HGVS:

NC_000015.10:g.65077557C>T
NG_021411.1:g.5742C>T
NM_001101362.3:c.742C>TMANE SELECT
NP_001094832.1:p.Arg248Cys
NP_001094832.1:p.Arg248Cys
LRG_682t1:c.742C>T
LRG_682:g.5742C>T
LRG_682p1:p.Arg248Cys
NC_000015.9:g.65369895C>T
NM_001101362.2:c.742C>T

Protein change:

R248C

Links:

dbSNP: rs200549195

NCBI 1000 Genomes Browser:

rs200549195

Molecular consequence:

NM_001101362.3:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001807213	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001936467	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 12, 2018)	germline	clinical testing	Citation Link,
SCV001960015	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001807213

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

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV001936467

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 12, 2018)

germline

clinical testing

Citation Link,

SCV001960015

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

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, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807213.1

#	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 GeneDx, SCV001936467.1

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

Description

This variant is associated with the following publications: (PMID: 31127727)

#	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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001960015.1

#	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: Sep 29, 2024

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