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NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV004026160.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)]

NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)

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.3860G>A (p.Arg1287His)
HGVS:
  • NC_000009.12:g.136506757C>T
  • NG_007458.1:g.44030G>A
  • NM_017617.5:c.3860G>AMANE SELECT
  • NP_060087.3:p.Arg1287His
  • LRG_1122t1:c.3860G>A
  • LRG_1122:g.44030G>A
  • LRG_1122p1:p.Arg1287His
  • NC_000009.11:g.139401209C>T
  • NM_017617.3:c.3860G>A
  • NM_017617.4:c.3860G>A
Protein change:
R1287H
Links:
dbSNP: rs763679772
NCBI 1000 Genomes Browser:
rs763679772
Molecular consequence:
  • NM_017617.5:c.3860G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005027211Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

Preuss C, Capredon M, Wünnemann F, Chetaille P, Prince A, Godard B, Leclerc S, Sobreira N, Ling H, Awadalla P, Thibeault M, Khairy P; MIBAVA Leducq consortium, Samuels ME, Andelfinger G.

PLoS Genet. 2016 Oct;12(10):e1006335. doi: 10.1371/journal.pgen.1006335.

PubMed [citation]
PMID:
27760138
PMCID:
PMC5070860

Details of each submission

From Ambry Genetics, SCV005027211.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R1287H variant (also known as c.3860G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3860. The arginine at codon 1287 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a congenital heart disease cohort (Preuss C et al. PLoS Genet, 2016 Oct;12:e1006335). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2025