NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 30, 2019
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:: RCV001288881.3

Allele description [Variation Report for NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)]

NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)

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.1931T>A (p.Val644Asp)

HGVS:

NC_000019.10:g.15186898A>T
NG_009819.1:g.19084T>A
NM_000435.3:c.1931T>AMANE SELECT
NP_000426.2:p.Val644Asp
NC_000019.9:g.15297709A>T
NC_000019.9:g.15297709A>T
NM_000435.2:c.1931T>A

Protein change:

V644D

Links:

dbSNP: rs148046938

NCBI 1000 Genomes Browser:

rs148046938

Molecular consequence:

NM_000435.3:c.1931T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001476278	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Sep 30, 2019)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19006080, 19056668, 20038773, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001476278

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Sep 30, 2019)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C, Mazzei R, Conforti FL, Sprovieri T, Servillo P, Liguori M, Citrigno L, Gabriele AL, Magariello A, Patitucci A, Muglia M, Quattrone A.

J Neurosci Res. 2009 Apr;87(5):1162-7. doi: 10.1002/jnr.21935.

PubMed [citation]

PMID:: 19006080

Conventional MRI and NOTCH3 gene screening in sporadic CADASIL.

Liguori M, Mazzei R, Ungaro C, Simone IL, Gambardella A, Plasmati I, Fera F, Aguglia U, Lanza P, Bono F, Chiumarulo L, Conforti FL, Consoli D, Quattrone A.

Neurology. 2009 Feb 3;72(5):469-71. doi: 10.1212/01.wnl.0000336342.04778.2b. Epub 2008 Dec 3. No abstract available.

PubMed [citation]

PMID:: 19056668

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV001476278.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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