NM_005215.4(DCC):c.571dup (p.Val191fs) AND Mirror movements 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 30, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000192078.3

Allele description [Variation Report for NM_005215.4(DCC):c.571dup (p.Val191fs)]

NM_005215.4(DCC):c.571dup (p.Val191fs)

Gene:

DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005215.4(DCC):c.571dup (p.Val191fs)

HGVS:

NC_000018.10:g.52906202dup
NG_013341.2:g.571031dup
NM_005215.4:c.571dupMANE SELECT
NP_005206.2:p.Val191fs
LRG_1107t1:c.571dup
LRG_1107:g.571031dup
LRG_1107p1:p.Val191fs
NC_000018.9:g.50432572dup
NM_005215.3:c.571dupG
NP_005206.2:p.V191GfsTer35

Protein change:

V191fs

Links:

OMIM: 120470.0004; dbSNP: rs797044552

NCBI 1000 Genomes Browser:

rs797044552

Molecular consequence:

NM_005215.4:c.571dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mirror movements 1 (MRMV1)
Identifiers:: MONDO: MONDO:0008002; MedGen: C1834870; Orphanet: 238722; OMIM: 157600

Recent activity

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Homo sapiens adenylate kinase 2 (AK2), transcript variant 3, mRNA; nuclear gene ...
Homo sapiens adenylate kinase 2 (AK2), transcript variant 3, mRNA; nuclear gene for mitochondrial product
gi|1676317328|ref|NM_001199199.2|

Nucleotide
Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:15301 IMAGE:4304794), comp...
Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:15301 IMAGE:4304794), complete cds
gi|39645192|gb|BC009405.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038889	OMIM	no assertion criteria provided	Pathogenic (Apr 30, 2010)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19127048, 20431009
SCV000218410	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038889

OMIM

no assertion criteria provided

Pathogenic
(Apr 30, 2010)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000218410

GeneReviews

no classification provided

not provided

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Familial mirror movements over five generations.

Sharafaddinzadeh N, Bavarsad R, Yousefkhah M, Aleali AM.

Neurol India. 2008 Oct-Dec;56(4):482-3. No abstract available.

PubMed [citation]

PMID:: 19127048

Mutations in DCC cause congenital mirror movements.

Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA.

Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463.

PubMed [citation]

PMID:: 20431009

Details of each submission

From OMIM, SCV000038889.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a 5-generation Iranian family with congenital mirror movements (MRMV1; 157600), initially described by Sharafaddinzadeh et al. (2008), Srour et al. (2010) identified insertion of a guanine at nucleotide 571 in exon 3 of the DCC gene, resulting in frameshift with a termination codon 35 amino acids later (571dupG; Val191GlyfsTer35). This mutation was absent in 538 unrelated control individuals.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000218410.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Apr 6, 2024

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