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NM_005215.3:c.[3649A>G;3748G>A] 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:
RCV000416369.3

Alleles description [Variation Report for NM_005215.3:c.[3649A>G;3748G>A]]

NM_005215.4(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_005215.4(DCC):c.3649A>G (p.Met1217Val)
HGVS:
  • NC_000018.10:g.53467923A>G
  • NG_013341.2:g.1132752A>G
  • NM_005215.4:c.3649A>GMANE SELECT
  • NP_005206.2:p.Met1217Val
  • LRG_1107t1:c.3649A>G
  • LRG_1107:g.1132752A>G
  • LRG_1107p1:p.Met1217Val
  • NC_000018.9:g.50994293A>G
  • NM_005215.3:c.3649A>G
Protein change:
M1217V
Links:
dbSNP: rs1057519058
NCBI 1000 Genomes Browser:
rs1057519058
Molecular consequence:
  • NM_005215.4:c.3649A>G - missense variant - [Sequence Ontology: SO:0001583]

NM_005215.4(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_005215.4(DCC):c.3748G>A (p.Ala1250Thr)
HGVS:
  • NC_000018.10:g.53486808G>A
  • NG_013341.2:g.1151637G>A
  • NM_005215.4:c.3748G>AMANE SELECT
  • NP_005206.2:p.Ala1250Thr
  • LRG_1107t1:c.3748G>A
  • LRG_1107:g.1151637G>A
  • LRG_1107p1:p.Ala1250Thr
  • NC_000018.9:g.51013178G>A
  • NM_005215.3:c.3748G>A
Protein change:
A1250T
Links:
dbSNP: rs748112308
NCBI 1000 Genomes Browser:
rs748112308
Molecular consequence:
  • NM_005215.4:c.3748G>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
SCV000485060Neurogenetics Research; Murdoch Childrens Research Institute
no assertion criteria provided
Pathogenic
(Jan 1, 2016) 		germlineresearch

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, 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: May 7, 2024