NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 4, 2022
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:: RCV002342918.3

Allele description [Variation Report for NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)]

NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)

Gene:

NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)

HGVS:

NC_000009.12:g.136504704G>A
NG_007458.1:g.46083C>T
NM_017617.5:c.4987C>TMANE SELECT
NP_060087.3:p.Arg1663Trp
LRG_1122t1:c.4987C>T
LRG_1122:g.46083C>T
LRG_1122p1:p.Arg1663Trp
NC_000009.11:g.139399156G>A
NM_017617.3:c.4987C>T

Protein change:

R1663W

Molecular consequence:

NM_017617.5:c.4987C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:: Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:: MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

Recent activity

Clear Turn Off Turn On

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
SCV002642216	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 4, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002642216

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 4, 2022)

germline

clinical testing

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

Citation Link

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

Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia.

Mansur MB, Hassan R, Barbosa TC, Splendore A, Jotta PY, Yunes JA, Wiemels JL, Pombo-de-Oliveira MS.

BMC Cancer. 2012 Jan 6;12:9. doi: 10.1186/1471-2407-12-9.

PubMed [citation]

PMID:: 22225590
PMCID:: PMC3305583

Details of each submission

From Ambry Genetics, SCV002642216.3

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

Description

The p.R1663W variant (also known as c.4987C>T), located in coding exon 26 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4987. The arginine at codon 1663 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine