NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 30, 2023
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:: RCV001463517.7

Allele description [Variation Report for NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)]

NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)

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.3010C>G (p.Leu1004Val)

HGVS:

NC_000002.12:g.74365534G>C
NG_008735.2:g.31554C>G
NM_001135040.3:c.2950C>G
NM_001135041.3:c.2608C>G
NM_001190836.2:c.2899C>G
NM_001190837.2:c.2989C>G
NM_001378991.1:c.2959C>G
NM_001378992.1:c.2941C>G
NM_004082.5:c.3010C>GMANE SELECT
NM_023019.4:c.2608C>G
NP_001128512.1:p.Leu984Val
NP_001128513.1:p.Leu870Val
NP_001177765.1:p.Leu967Val
NP_001177766.1:p.Leu997Val
NP_001365920.1:p.Leu987Val
NP_001365921.1:p.Leu981Val
NP_004073.2:p.Leu1004Val
NP_004073.2:p.Leu1004Val
NP_075408.1:p.Leu870Val
LRG_237t1:c.3010C>G
LRG_237:g.31554C>G
LRG_237p1:p.Leu1004Val
NC_000002.11:g.74592661G>C
NM_004082.4:c.3010C>G
NR_033935.2:n.3073C>G

Protein change:

L1004V

Links:

dbSNP: rs758387062

NCBI 1000 Genomes Browser:

rs758387062

Molecular consequence:

NM_001135040.3:c.2950C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135041.3:c.2608C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190836.2:c.2899C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190837.2:c.2989C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378991.1:c.2959C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378992.1:c.2941C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004082.5:c.3010C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_023019.4:c.2608C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033935.2:n.3073C>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001667463	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001667463

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 30, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV001667463.4

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

#	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

Last Updated: Oct 13, 2024

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