NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jun 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000541293.42

Allele description [Variation Report for NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)]

NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)

Gene:

DCTN1:dynactin subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)

HGVS:

NC_000002.12:g.74371596T>C
NG_008735.2:g.25492A>G
NM_001135040.3:c.526A>G
NM_001135041.3:c.184A>G
NM_001190836.2:c.475A>G
NM_001190837.2:c.565A>G
NM_001378991.1:c.535A>G
NM_001378992.1:c.517A>G
NM_004082.5:c.586A>GMANE SELECT
NM_023019.4:c.184A>G
NP_001128512.1:p.Ile176Val
NP_001128513.1:p.Ile62Val
NP_001177765.1:p.Ile159Val
NP_001177766.1:p.Ile189Val
NP_001365920.1:p.Ile179Val
NP_001365921.1:p.Ile173Val
NP_004073.2:p.Ile196Val
NP_004073.2:p.Ile196Val
NP_075408.1:p.Ile62Val
LRG_237t1:c.586A>G
LRG_237:g.25492A>G
LRG_237p1:p.Ile196Val
NC_000002.11:g.74598723T>C
NM_004082.4:c.586A>G
NR_033935.2:n.566A>G
Q14203:p.Ile196Val

Protein change:

I159V

Links:

UniProtKB: Q14203#VAR_076920; dbSNP: rs55862001

NCBI 1000 Genomes Browser:

rs55862001

Molecular consequence:

NM_001135040.3:c.526A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135041.3:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190836.2:c.475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190837.2:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378991.1:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378992.1:c.517A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004082.5:c.586A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_023019.4:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033935.2:n.566A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV000603293	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Sep 14, 2023)	germline	clinical testing	Citation Link,
SCV001152368	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2024)	germline	clinical testing	Citation Link,
SCV001926773	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001950536	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Dec 28, 2018)	germline	clinical testing	Citation Link,
SCV001967080	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	13	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603293.6

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001152368.27

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	not provided

Description

DCTN1: BS2

#	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		13	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926773.1

#	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, SCV001950536.2

#	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: 23143281, 25382069)

#	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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967080.1

#	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: Nov 24, 2024

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