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NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) AND Mirror movements 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 3, 2017
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:
RCV000494701.1

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:
Mirror movements 1 (MRMV1)
Identifiers:
MONDO: MONDO:0008002; MedGen: C1834870; Orphanet: 238722; OMIM: 157600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583452OMIM
no assertion criteria provided
Pathogenic
(Jul 3, 2017) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, et al.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

PubMed [citation]
PMID:
28250454
PMCID:
PMC5894478

Details of each submission

From OMIM, SCV000583452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 members of a 3-generation family (family 4) with congenital mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600), Marsh et al. (2017) identified a heterozygous c.2414G-A transition (c.2414G-A, NM_005215.3) in the DCC gene, resulting in a gly805-to-glu (G805E) substitution in the netrin-1 binding domain. The mutation was found by direct sequencing and was not present in the dbSNP, 1000 Genomes Project, or ExAC databases. The mutation segregated with the disorder in the family, but there was evidence of incomplete penetrance. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to be disruptive.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024