NM_000214.3(JAG1):c.439+1G>A AND Atypical coarctation of aorta

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 26, 2018
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:: RCV000845195.1

Allele description [Variation Report for NM_000214.3(JAG1):c.439+1G>A]

NM_000214.3(JAG1):c.439+1G>A

Gene:

JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_000214.3(JAG1):c.439+1G>A

HGVS:

NC_000020.11:g.10663962C>T
NG_007496.1:g.15085G>A
NM_000214.3:c.439+1G>AMANE SELECT
LRG_1191t1:c.439+1G>A
LRG_1191:g.15085G>A
NC_000020.10:g.10644610C>T
NM_000214.2:c.439+1G>A

Links:

dbSNP: rs863223648

NCBI 1000 Genomes Browser:

rs863223648

Molecular consequence:

NM_000214.3:c.439+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Atypical coarctation of aorta
Synonyms:: Midaortic syndrome
Identifiers:: MONDO: MONDO:0015446; MedGen: C3496579

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
SCV000987131	Yale Center for Mendelian Genomics, Yale University	no assertion criteria provided	Likely pathogenic (Feb 26, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000987131

Yale Center for Mendelian Genomics, Yale University

no assertion criteria provided

Likely pathogenic
(Feb 26, 2018)

germline

literature only

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	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, et al.

Hypertension. 2018 Apr;71(4):691-699. doi: 10.1161/HYPERTENSIONAHA.117.10296. Epub 2018 Feb 26.

PubMed [citation]

PMID:: 29483232
PMCID:: PMC5843550

Details of each submission

From Yale Center for Mendelian Genomics, Yale University, SCV000987131.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	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		1	not provided	not provided	not provided

Last Updated: Feb 25, 2025

ClinVar

Relating variation to medicine