NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 2015
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:: RCV000711003.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr)]

NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr)

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.431G>A (p.Cys144Tyr)

HGVS:

NC_000019.10:g.15192208C>T
NG_009819.1:g.13774G>A
NM_000435.3:c.431G>AMANE SELECT
NP_000426.2:p.Cys144Tyr
NC_000019.9:g.15303019C>T
NM_000435.2:c.431G>A

Protein change:

C144Y

Links:

dbSNP: rs1568361985

NCBI 1000 Genomes Browser:

rs1568361985

Molecular consequence:

NM_000435.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841319	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Mar 5, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15364702, 16009764, 10854111, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841319

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Mar 5, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M.

Brain. 2004 Nov;127(Pt 11):2533-9. Epub 2004 Sep 13.

PubMed [citation]

PMID:: 15364702

Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.

Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M.

Arch Neurol. 2005 Jul;62(7):1091-4.

PubMed [citation]

PMID:: 16009764

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000841319.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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