NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) AND Corpus callosum, agenesis of

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV000416322.1

Allele description [Variation Report for NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)]

NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)

Gene:

DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.2

Genomic location:

Preferred name:

NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)

HGVS:

NC_000018.10:g.53386097G>A
NG_013341.2:g.1050926G>A
NM_005215.4:c.2414G>AMANE SELECT
NP_005206.2:p.Gly805Glu
LRG_1107t1:c.2414G>A
LRG_1107:g.1050926G>A
LRG_1107p1:p.Gly805Glu
NC_000018.9:g.50912467G>A
NM_005215.3:c.2414G>A

Protein change:

G805E; GLY805GLU

Links:

OMIM: 120470.0009; dbSNP: rs1057519055

NCBI 1000 Genomes Browser:

rs1057519055

Molecular consequence:

NM_005215.4:c.2414G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Corpus callosum, agenesis of
Synonyms:: Corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Da silva syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009022; MedGen: C0175754; Orphanet: 200; OMIM: 217990; Human Phenotype Ontology: HP:0001274

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485055	Neurogenetics Research; Murdoch Childrens Research Institute	no assertion criteria provided	Pathogenic (Jan 1, 2016)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485055

Neurogenetics Research; Murdoch Childrens Research Institute

no assertion criteria provided

Pathogenic
(Jan 1, 2016)

germline

research

Description

Mutations in DCC can cause either agenesis of the corpus callosum, mirror movements or both phenotypes: SCV000485055

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	research

Details of each submission

From Neurogenetics Research; Murdoch Childrens Research Institute, SCV000485055.1

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

#	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 6, 2024

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