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

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 14, 2021)
Accession:
VCV001172656.1
Variation ID:
1172656
Description:
single nucleotide variant
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NM_005618.4(DLL1):c.553G>T (p.Gly185Ter)

Allele ID
1161802
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q27
Genomic location
6: 170288356 (GRCh38) GRCh38 UCSC
6: 170597444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.170597444C>A
NC_000006.12:g.170288356C>A
NM_005618.4:c.553G>T MANE Select NP_005609.3:p.Gly185Ter nonsense
NG_027940.1:g.7254G>T
Protein change
G185*
Other names
-
Canonical SPDI
NC_000006.12:170288355:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV001526630.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DLL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
93 167

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Abnormality of brain morphology
Allele origin: maternal
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737061.1
Submitted: (Jun 14, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 22, 2021