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NM_005215.4(DCC):c.2677G>A (p.Ala893Thr) 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:
RCV000416342.1

Allele description [Variation Report for NM_005215.4(DCC):c.2677G>A (p.Ala893Thr)]

NM_005215.4(DCC):c.2677G>A (p.Ala893Thr)

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.2677G>A (p.Ala893Thr)
HGVS:
  • NC_000018.10:g.53391876G>A
  • NG_013341.2:g.1056705G>A
  • NM_005215.4:c.2677G>AMANE SELECT
  • NP_005206.2:p.Ala893Thr
  • LRG_1107t1:c.2677G>A
  • LRG_1107:g.1056705G>A
  • LRG_1107p1:p.Ala893Thr
  • NC_000018.9:g.50918246G>A
  • NM_005215.3:c.2677G>A
Protein change:
A893T
Links:
dbSNP: rs1057519057
NCBI 1000 Genomes Browser:
rs1057519057
Molecular consequence:
  • NM_005215.4:c.2677G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485059Neurogenetics Research; Murdoch Childrens Research Institute
no assertion criteria provided
Pathogenic
(Jan 1, 2016) 		germlineresearch

Description

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

SCV000485059

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Neurogenetics Research; Murdoch Childrens Research Institute, SCV000485059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022