NM_005618.4(DLL1):c.553G>T (p.Gly185Ter) AND Abnormality of brain morphology

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526630.1

Allele description [Variation Report for NM_005618.4(DLL1):c.553G>T (p.Gly185Ter)]

NM_005618.4(DLL1):c.553G>T (p.Gly185Ter)

Gene:
DLL1:delta like canonical Notch ligand 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q27
Genomic location:
Preferred name:
NM_005618.4(DLL1):c.553G>T (p.Gly185Ter)
HGVS:
  • NC_000006.12:g.170288356C>A
  • NG_027940.1:g.7254G>T
  • NM_005618.4:c.553G>TMANE SELECT
  • NP_005609.3:p.Gly185Ter
  • NC_000006.11:g.170597444C>A
  • NM_005618.3:c.553G>T
Protein change:
G185*
Molecular consequence:
  • NM_005618.4:c.553G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Abnormality of brain morphology
Synonyms:
Abnormality of the brain; Abnormal shape of brain
Identifiers:
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737061Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenicmaternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001737061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 22, 2021

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