NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup) AND Abnormal cortical gyration

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 8, 2013
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:: RCV000193684.6

Allele description [Variation Report for NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup)]

NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup)

HGVS:

NC_000023.11:g.111410084_111410086dup
NG_011750.1:g.7093_7095dup
NM_000555.3:c.556_558dup
NM_001195553.2:c.313_315dupMANE SELECT
NM_001369370.1:c.313_315dup
NM_001369371.1:c.313_315dup
NM_001369372.1:c.313_315dup
NM_001369373.1:c.313_315dup
NM_001369374.1:c.313_315dup
NM_178152.3:c.313_315dup
NM_178153.3:c.313_315dup
NP_000546.2:p.Tyr186dup
NP_001182482.1:p.Tyr105dup
NP_001356299.1:p.Tyr105dup
NP_001356300.1:p.Tyr105dup
NP_001356301.1:p.Tyr105dup
NP_001356302.1:p.Tyr105dup
NP_001356303.1:p.Tyr105dup
NP_835365.1:p.Tyr105dup
NP_835366.1:p.Tyr105dup
NC_000023.10:g.110653312_110653314dup

Links:

dbSNP: rs797045513

NCBI 1000 Genomes Browser:

rs797045513

Molecular consequence:

NM_000555.3:c.556_558dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001195553.2:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369370.1:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369371.1:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369372.1:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369373.1:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369374.1:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_178152.3:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_178153.3:c.313_315dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Abnormal cortical gyration
Identifiers:: MedGen: C1856019; Human Phenotype Ontology: HP:0002536

Recent activity

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Mus musculus exosome component 8 (Exosc8), transcript variant 2, mRNA
Mus musculus exosome component 8 (Exosc8), transcript variant 2, mRNA
gi|2173203521|ref|NM_027148.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000247167	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Feb 8, 2013)	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

SCV000247167

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Feb 8, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247167.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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