U.S. flag

An official website of the United States government

NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) AND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002508218.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)]

NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)

Gene:
NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)
HGVS:
  • NC_000019.10:g.15197537G>A
  • NG_009819.1:g.8445C>T
  • NM_000435.3:c.160C>TMANE SELECT
  • NP_000426.2:p.Arg54Cys
  • NC_000019.9:g.15308348G>A
  • NM_000435.2:c.160C>T
Protein change:
R54C
Links:
dbSNP: rs1555730189
NCBI 1000 Genomes Browser:
rs1555730189
Molecular consequence:
  • NM_000435.3:c.160C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Synonyms:
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; CASIL
Identifiers:
MONDO: MONDO:0007432; MedGen: C0751587; OMIM: PS125310

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818099GenomeConnect - CureCADASIL
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - CureCADASIL, SCV002818099.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 02-03-2017 by Lab or GTR ID 1012. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 7, 2024