NM_001195553.2(DCX):c.670del (p.Val224fs) AND Ectopic tissue

Germline classification:: 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:: RCV000145881.6

Allele description [Variation Report for NM_001195553.2(DCX):c.670del (p.Val224fs)]

NM_001195553.2(DCX):c.670del (p.Val224fs)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.670del (p.Val224fs)

HGVS:

NC_000023.11:g.111401028del
NG_011750.1:g.16154del
NM_000555.3:c.913del
NM_001195553.2:c.670delMANE SELECT
NM_001369370.1:c.670del
NM_001369371.1:c.670del
NM_001369372.1:c.670del
NM_001369373.1:c.670del
NM_001369374.1:c.670del
NM_178151.3:c.670del
NM_178152.3:c.670del
NM_178153.3:c.670del
NP_000546.2:p.Val305fs
NP_001182482.1:p.Val224fs
NP_001356299.1:p.Val224fs
NP_001356300.1:p.Val224fs
NP_001356301.1:p.Val224fs
NP_001356302.1:p.Val224fs
NP_001356303.1:p.Val224fs
NP_835364.1:p.Val224fs
NP_835364.1:p.Val224fs
NP_835365.1:p.Val224fs
NP_835366.1:p.Val224fs
NC_000023.10:g.110644256del
NM_178151.2:c.670del

Protein change:

V224fs

Links:

dbSNP: rs587783578

NCBI 1000 Genomes Browser:

rs587783578

Molecular consequence:

NM_000555.3:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195553.2:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369370.1:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369371.1:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369372.1:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369373.1:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369374.1:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178151.3:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178152.3:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178153.3:c.670del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ectopic tissue
Synonyms:: Heterotopia
Identifiers:: MedGen: C0008519

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000193018	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	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

SCV000193018

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

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, SCV000193018.1

#	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: Aug 13, 2023

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