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NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001663871.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys)]

NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys)

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.566A>G (p.Tyr189Cys)
HGVS:
  • NC_000019.10:g.15192073T>C
  • NG_009819.1:g.13909A>G
  • NM_000435.3:c.566A>GMANE SELECT
  • NP_000426.2:p.Tyr189Cys
  • NC_000019.9:g.15302884T>C
  • NM_000435.2:c.566A>G
Protein change:
Y189C
Links:
dbSNP: rs2145441610
NCBI 1000 Genomes Browser:
rs2145441610
Molecular consequence:
  • NM_000435.3:c.566A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001879627Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Pathogenic
(Nov 16, 2020) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Diagnostic strategies in CADASIL.

Razvi SS, Davidson R, Bone I, Muir KW.

Neurology. 2003 Jun 24;60(12):2019-20; author reply 2020. No abstract available.

PubMed [citation]
PMID:
12821764

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.

Singhal S, Bevan S, Barrick T, Rich P, Markus HS.

Brain. 2004 Sep;127(Pt 9):2031-8. Epub 2004 Jun 30.

PubMed [citation]
PMID:
15229130
See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV001879627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of NOTCH3 pathogenic mutations associated with CADASIL involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain (PMID: 32457593, 20301673).

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

Last Updated: May 7, 2024