NM_001195553.2(DCX):c.691_692del (p.Leu231fs) AND Subcortical laminar heterotopia, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 1998
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:: RCV000012370.24

Allele description [Variation Report for NM_001195553.2(DCX):c.691_692del (p.Leu231fs)]

NM_001195553.2(DCX):c.691_692del (p.Leu231fs)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.691_692del (p.Leu231fs)

HGVS:

NC_000023.11:g.111401003AG[1]
NG_011750.1:g.16173CT[1]
NM_000555.3:c.934_935del
NM_001195553.2:c.691_692delMANE SELECT
NM_001369370.1:c.691_692del
NM_001369371.1:c.691_692del
NM_001369372.1:c.691_692del
NM_001369373.1:c.691_692del
NM_001369374.1:c.691_692del
NM_178151.3:c.691_692del
NM_178152.3:c.691_692del
NM_178153.3:c.691_692del
NP_000546.2:p.Leu312fs
NP_001182482.1:p.Leu231fs
NP_001356299.1:p.Leu231fs
NP_001356300.1:p.Leu231fs
NP_001356301.1:p.Leu231fs
NP_001356302.1:p.Leu231fs
NP_001356303.1:p.Leu231fs
NP_835364.1:p.Leu231fs
NP_835365.1:p.Leu231fs
NP_835366.1:p.Leu231fs
NC_000023.10:g.110644231AG[1]
NM_178153.2:c.691_692delCT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L231fs

Links:

OMIM: 300121.0010; dbSNP: rs1569497266

NCBI 1000 Genomes Browser:

rs1569497266

Molecular consequence:

NM_000555.3:c.934_935del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195553.2:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369370.1:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369371.1:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369372.1:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369373.1:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369374.1:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178151.3:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178152.3:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178153.3:c.691_692del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Subcortical laminar heterotopia, X-linked (SCLH)
Identifiers:: MedGen: C1848070

Recent activity

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guanine nucleotide-binding protein G(q) subunit alpha [Pteronotus mesoamericanus...
guanine nucleotide-binding protein G(q) subunit alpha [Pteronotus mesoamericanus]
gi|2466532839|ref|XP_054438976.1|

Protein
Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 [Rattus norvegic...
Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 [Rattus norvegicus]
Gene ID:314785

Gene
NP_001005781 OR NP_003343 OR NP_001005782 OR NP_001358323 OR NP_0... (6)
NP_001005781 OR NP_003343 OR NP_001005782 OR NP_001358323 OR NP_001358322 OR NP_001358321
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Protein
Centaurea heldreichii (4)
Nucleotide
Heliotropium bocconei (0)
Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032604	OMIM	no assertion criteria provided	Pathogenic (Jan 9, 1998)	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

SCV000032604

OMIM

no assertion criteria provided

Pathogenic
(Jan 9, 1998)

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

Citations

PubMed

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA.

Cell. 1998 Jan 9;92(1):63-72.

PubMed [citation]

PMID:: 9489700

Details of each submission

From OMIM, SCV000032604.1

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

Description

In a female with SCLH (see 300067), Gleeson et al. (1998) found a de novo 2-bp deletion (691delCT) in the DCX gene, resulting in a protein truncation at amino acid 240.

#	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

Last Updated: Apr 23, 2022

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