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NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 2019
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:
RCV001056143.2

Allele description [Variation Report for NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)]

NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)

Gene:
DCTN1:dynactin subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs)
HGVS:
  • NC_000002.12:g.74365987dup
  • NG_008735.2:g.31102dup
  • NM_001135040.3:c.2733dup
  • NM_001135041.3:c.2391dup
  • NM_001190836.2:c.2682dup
  • NM_001190837.2:c.2772dup
  • NM_001378991.1:c.2742dup
  • NM_001378992.1:c.2724dup
  • NM_004082.5:c.2793dupMANE SELECT
  • NM_023019.4:c.2391dup
  • NP_001128512.1:p.Arg912fs
  • NP_001128513.1:p.Arg798fs
  • NP_001177765.1:p.Arg895fs
  • NP_001177766.1:p.Arg925fs
  • NP_001365920.1:p.Arg915fs
  • NP_001365921.1:p.Arg909fs
  • NP_004073.2:p.Arg932fs
  • NP_004073.2:p.Arg932fs
  • NP_075408.1:p.Arg798fs
  • LRG_237t1:c.2793dup
  • LRG_237:g.31102dup
  • LRG_237p1:p.Arg932fs
  • NC_000002.11:g.74593114dup
  • NM_004082.4:c.2793dup
  • NR_033935.2:n.2856dup
Protein change:
R798fs
Links:
dbSNP: rs1674376535
NCBI 1000 Genomes Browser:
rs1674376535
Molecular consequence:
  • NM_001135040.3:c.2733dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001135041.3:c.2391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001190836.2:c.2682dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001190837.2:c.2772dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378991.1:c.2742dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378992.1:c.2724dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004082.5:c.2793dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_023019.4:c.2391dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_033935.2:n.2856dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 1 (ALS1)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Identifiers:
MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400
Name:
Perry syndrome
Synonyms:
Parkinsonism with alveolar hypoventilation and mental depression
Identifiers:
MONDO: MONDO:0008201; MedGen: C1868594; Orphanet: 178509; OMIM: 168605
Name:
Neuronopathy, distal hereditary motor, type 7B
Synonyms:
HMN VIIB; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011879; MedGen: C1843315; Orphanet: 139589; OMIM: 607641

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001220564Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Dec 26, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001220564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal (p.Arg932Serfs*8) in the DCTN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DCTN1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DCTN1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024