NM_005215.3:c.[3649A>G;3748G>A] AND Corpus callosum agenesis

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416369.1

Alleles description

NM_005215.3(DCC):c.3649A>G (p.Met1217Val)

Gene:
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005215.3(DCC):c.3649A>G (p.Met1217Val)
HGVS:
  • NC_000018.10:g.53467923A>G
  • NG_013341.2:g.1132752A>G
  • NM_005215.3:c.3649A>G
  • NP_005206.2:p.Met1217Val
  • NC_000018.9:g.50994293A>G
Protein change:
M1217V
Links:
dbSNP: rs1057519058
NCBI 1000 Genomes Browser:
rs1057519058
Molecular consequence:
  • NM_005215.3:c.3649A>G - missense variant - [Sequence Ontology: SO:0001583]

NM_005215.3(DCC):c.3748G>A (p.Ala1250Thr)

Gene:
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005215.3(DCC):c.3748G>A (p.Ala1250Thr)
HGVS:
  • NC_000018.10:g.53486808G>A
  • NG_013341.2:g.1151637G>A
  • NM_005215.3:c.3748G>A
  • NP_005206.2:p.Ala1250Thr
  • NC_000018.9:g.51013178G>A
Protein change:
A1250T
Links:
dbSNP: rs748112308
NCBI 1000 Genomes Browser:
rs748112308
Molecular consequence:
  • NM_005215.3:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Corpus callosum agenesis (ACC)
Synonyms:
Isolated corpus callosum agenesis
Identifiers:
MedGen: C0175754; Orphanet: 200; OMIM: 217990

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485060Neurogenetics Research; Murdoch Childrens Research Instituteno assertion criteria providedPathogenic
(Jan 1, 2016)
germlineresearch

Description

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

SCV000485060

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, SCV000485060.1

#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 29, 2017