NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr) AND Vascular dementia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 1, 2020
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:: RCV001263184.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)]

NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)

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.323G>A (p.Cys108Tyr)

HGVS:

NC_000019.10:g.15192394C>T
NG_009819.1:g.13588G>A
NM_000435.3:c.323G>AMANE SELECT
NP_000426.2:p.Cys108Tyr
NC_000019.9:g.15303205C>T
NM_000435.2:c.323G>A

Protein change:

C108Y

Links:

dbSNP: rs1555729584

NCBI 1000 Genomes Browser:

rs1555729584

Molecular consequence:

NM_000435.3:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Vascular dementia
Identifiers:: MONDO: MONDO:0004648; MeSH: D015140; MedGen: C0011269

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001250696	Myllykangas group, University of Helsinki	no assertion criteria provided	Likely pathogenic (Apr 1, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001250696

Myllykangas group, University of Helsinki

no assertion criteria provided

Likely pathogenic
(Apr 1, 2020)

germline

research

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	research

Citations

PubMed

Whole-exome sequencing of Finnish patients with vascular cognitive impairment.

Mönkäre S, Kuuluvainen L, Kun-Rodrigues C, Carmona S, Schleutker J, Bras J, Pöyhönen M, Guerreiro R, Myllykangas L.

Eur J Hum Genet. 2021 Apr;29(4):663-671. doi: 10.1038/s41431-020-00775-9. Epub 2020 Dec 2.

PubMed [citation]

PMID:: 33268848
PMCID:: PMC8115269

Details of each submission

From Myllykangas group, University of Helsinki, SCV001250696.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: May 7, 2024

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