NM_001195553.2(DCX):c.557G>A (p.Arg186His) AND Lissencephaly type 1 due to doublecortin gene mutation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2017
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:: RCV000680148.3

Allele description [Variation Report for NM_001195553.2(DCX):c.557G>A (p.Arg186His)]

NM_001195553.2(DCX):c.557G>A (p.Arg186His)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.557G>A (p.Arg186His)

HGVS:

NC_000023.11:g.111401138C>T
NG_011750.1:g.16041G>A
NM_000555.3:c.800G>A
NM_001195553.2:c.557G>AMANE SELECT
NM_001369370.1:c.557G>A
NM_001369371.1:c.557G>A
NM_001369372.1:c.557G>A
NM_001369373.1:c.557G>A
NM_001369374.1:c.557G>A
NM_178151.3:c.557G>A
NM_178152.3:c.557G>A
NM_178153.3:c.557G>A
NP_000546.2:p.Arg267His
NP_001182482.1:p.Arg186His
NP_001356299.1:p.Arg186His
NP_001356300.1:p.Arg186His
NP_001356301.1:p.Arg186His
NP_001356302.1:p.Arg186His
NP_001356303.1:p.Arg186His
NP_835364.1:p.Arg186His
NP_835364.1:p.Arg186His
NP_835365.1:p.Arg186His
NP_835366.1:p.Arg186His
NC_000023.10:g.110644366C>T
NM_178151.2:c.557G>A
NM_178153.1:c.557G>A
NM_178153.2:c.557G>A

Protein change:

R186H

Links:

dbSNP: rs587783563

NCBI 1000 Genomes Browser:

rs587783563

Molecular consequence:

NM_000555.3:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195553.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369370.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369371.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369372.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369373.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369374.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_178151.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_178152.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_178153.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lissencephaly type 1 due to doublecortin gene mutation
Synonyms:: LISSENCEPHALY, X-LINKED, 1; Lissencephaly and agenesis of corpus callosum
Identifiers:: MONDO: MONDO:0010239; MedGen: C4551968; Orphanet: 2148; OMIM: 300067

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807595	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2017)	de novo	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17111359, 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807595

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2017)

de novo

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.

Kappeler C, Dhenain M, Phan Dinh Tuy F, Saillour Y, Marty S, Fallet-Bianco C, Souville I, Souil E, Pinard JM, Meyer G, Encha-Razavi F, Volk A, Beldjord C, Chelly J, Francis F.

J Comp Neurol. 2007 Jan 10;500(2):239-54.

PubMed [citation]

PMID:: 17111359

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000807595.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (3)

Description

This variant has been previously reported in single individual with no family, population, or functional studies. It was identified once in our laboratory de novo in a 12-year-old female with Lennox-Gastaut epilepsy, static encephalopathy, band heterotopia/double cortex on brain imaging, global delays, scoliosis.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

ClinVar

Relating variation to medicine