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NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 27, 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:
RCV004011415.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)]

NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)

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.617G>A (p.Cys206Tyr)
HGVS:
  • NC_000019.10:g.15192022C>T
  • NG_009819.1:g.13960G>A
  • NM_000435.3:c.617G>AMANE SELECT
  • NP_000426.2:p.Cys206Tyr
  • NC_000019.9:g.15302833C>T
Protein change:
C206Y
Molecular consequence:
  • NM_000435.3:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Synonyms:
Dementia, hereditary multi-infarct type; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
Identifiers:
MONDO: MONDO:0000914; MedGen: C4551768; Orphanet: 136; OMIM: 125310
Name:
Lateral meningocele syndrome (LMNS)
Synonyms:
Lehman syndrome
Identifiers:
MONDO: MONDO:0007537; MedGen: C1851710; Orphanet: 2789; OMIM: 130720
Name:
Myofibromatosis, infantile, 2
Identifiers:
MONDO: MONDO:0014122; MedGen: C3809084; Orphanet: 2591; OMIM: 615293

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004814234North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 27, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers AL, Frants RR, Breuning MH, Haan J.

Neurology. 1999 Jun 10;52(9):1913-5.

PubMed [citation]
PMID:
10371548

[A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch 3 gene].

Matsumoto H, Tsumoto M, Yamamoto T, Takahashi K, Tahira T, Ugawa Y, Tsuji S.

Rinsho Shinkeigaku. 2005 Jan;45(1):27-31. Japanese.

PubMed [citation]
PMID:
15714997
See all PubMed Citations (4)

Details of each submission

From North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, SCV004814234.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Criteria Codes: PS4_Supp PM1_Str PM2 PM5_Supp PP2 PP3

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

Last Updated: Sep 29, 2024