NM_001195553.2(DCX):c.781del (p.Gln261fs) AND Abnormal cerebral morphology

Germline classification:: Pathogenic (1 submission)
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:: RCV002275900.1

Allele description [Variation Report for NM_001195553.2(DCX):c.781del (p.Gln261fs)]

NM_001195553.2(DCX):c.781del (p.Gln261fs)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.781del (p.Gln261fs)

HGVS:

NC_000023.11:g.111333078del
NG_011750.1:g.84101del
NM_000555.3:c.1024del
NM_001195553.2:c.781delMANE SELECT
NM_001369370.1:c.781del
NM_001369371.1:c.781del
NM_001369372.1:c.781del
NM_001369373.1:c.781del
NM_001369374.1:c.781del
NM_178151.3:c.781del
NM_178152.3:c.781del
NM_178153.3:c.781del
NP_000546.2:p.Gln342fs
NP_001182482.1:p.Gln261fs
NP_001356299.1:p.Gln261fs
NP_001356300.1:p.Gln261fs
NP_001356301.1:p.Gln261fs
NP_001356302.1:p.Gln261fs
NP_001356303.1:p.Gln261fs
NP_835364.1:p.Gln261fs
NP_835365.1:p.Gln261fs
NP_835366.1:p.Gln261fs
NC_000023.10:g.110576306del

Protein change:

Q261fs

Links:

dbSNP: rs2147635268

NCBI 1000 Genomes Browser:

rs2147635268

Molecular consequence:

NM_000555.3:c.1024del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195553.2:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369370.1:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369371.1:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369372.1:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369373.1:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369374.1:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178151.3:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178152.3:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_178153.3:c.781del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Abnormal cerebral morphology
Synonyms:: Abnormality of the cerebrum
Identifiers:: MedGen: C4021762; Human Phenotype Ontology: HP:0002060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002562786	Diagnostic Laboratory, Strasbourg University Hospital	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002562786

Diagnostic Laboratory, Strasbourg University Hospital

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV002562786.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 24, 2023

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