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NM_000435.3(NOTCH3):c.579A>C (p.Leu193=) AND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 29, 2023
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:
RCV003494491.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.579A>C (p.Leu193=)]

NM_000435.3(NOTCH3):c.579A>C (p.Leu193=)

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.579A>C (p.Leu193=)
HGVS:
  • NC_000019.10:g.15192060T>G
  • NG_009819.1:g.13922A>C
  • NM_000435.3:c.579A>CMANE SELECT
  • NP_000426.2:p.Leu193=
  • NC_000019.9:g.15302871T>G
  • NM_000435.2:c.579A>C
Molecular consequence:
  • NM_000435.3:c.579A>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004244257Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
no assertion criteria provided

(ACMG Guidelines, 2015)		Likely benign
(Nov 29, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV004244257.1

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

Last Updated: Feb 14, 2024