NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe) AND Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 14, 2021
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:: RCV002466886.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)]

NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)

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>T (p.Cys144Phe)

HGVS:

NC_000019.10:g.15192208C>A
NG_009819.1:g.13774G>T
NM_000435.3:c.431G>TMANE SELECT
NP_000426.2:p.Cys144Phe
NC_000019.9:g.15303019C>A

Protein change:

C144F

Molecular consequence:

NM_000435.3:c.431G>T - 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

Recent activity

Clear Turn Off Turn On

MULTISPECIES: ABC transporter ATP-binding protein [Aeromonas]
MULTISPECIES: ABC transporter ATP-binding protein [Aeromonas]
gi|922000141|ref|WP_053288708.1|

Protein
glucose-1-phosphate thymidylyltransferase RfbA [Rouxiella badensis]
glucose-1-phosphate thymidylyltransferase RfbA [Rouxiella badensis]
gi|516059472|ref|WP_017490055.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002761754	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002761754

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 14, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetics and Molecular Pathology, SA Pathology, SCV002761754.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine