Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000435.2(NOTCH3):c.2411_2566del156

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 25, 2006
Accession:
VCV000009226.1
Variation ID:
9226
Description:
single nucleotide variant
Help

NM_000435.2(NOTCH3):c.2411_2566del156

Allele ID
24265
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15184451 (GRCh38) GRCh38 UCSC
19: 15295262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.15184451C>A
NC_000019.9:g.15295262C>A
NM_000435.2:c.2411_2566del
NG_009819.1:g.21531G>T
Protein change
-
Other names
IVS15AS, G-T, -1
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 600276.0009
dbSNP: rs864621966
Comment on variant
Intronic variant at the exon 16 splice site causes skipping of exon 16 in the mRNA transcript.
NCBI staff reviewed the sequence information reported in PubMed 16864835 Fig. F-H to determine the location of this allele on the current reference sequence.
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 25, 2006 RCV000009807.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH3 - - GRCh38
GRCh37
305 321

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 25, 2006)
no assertion criteria provided
Method: literature only
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000030028.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. Saiki S Neurology 2006 PMID: 16864835

Record last updated Jul 13, 2019