NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2017
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:: RCV000522141.1

Allele description [Variation Report for NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)]

NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)

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.2680A>G (p.Asn894Asp)

HGVS:

NC_000002.12:g.74366324T>C
NG_008735.2:g.30764A>G
NM_001135040.3:c.2620A>G
NM_001135041.3:c.2278A>G
NM_001190836.2:c.2569A>G
NM_001190837.2:c.2659A>G
NM_001378991.1:c.2629A>G
NM_001378992.1:c.2611A>G
NM_004082.5:c.2680A>GMANE SELECT
NM_023019.4:c.2278A>G
NP_001128512.1:p.Asn874Asp
NP_001128513.1:p.Asn760Asp
NP_001177765.1:p.Asn857Asp
NP_001177766.1:p.Asn887Asp
NP_001365920.1:p.Asn877Asp
NP_001365921.1:p.Asn871Asp
NP_004073.2:p.Asn894Asp
NP_004073.2:p.Asn894Asp
NP_075408.1:p.Asn760Asp
LRG_237t1:c.2680A>G
LRG_237:g.30764A>G
LRG_237p1:p.Asn894Asp
NC_000002.11:g.74593451T>C
NM_004082.4:c.2680A>G
NR_033935.2:n.2743A>G

Protein change:

N760D

Links:

dbSNP: rs1437825772

NCBI 1000 Genomes Browser:

rs1437825772

Molecular consequence:

NM_001135040.3:c.2620A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135041.3:c.2278A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190836.2:c.2569A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190837.2:c.2659A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378991.1:c.2629A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378992.1:c.2611A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004082.5:c.2680A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_023019.4:c.2278A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033935.2:n.2743A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000620165	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 15, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000620165

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 15, 2017)

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, SCV000620165.2

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

Description

The N894D variant in the DCTN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N894D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N894D variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution is not within a known functional domain of the protein and occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N894D as a variant of uncertain significance.

#	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

ClinVar

Relating variation to medicine