NM_000214.3(JAG1):c.439+1G>A AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 30, 2025
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000199991.7

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000250455	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 30, 2025)	germline	clinical testing	Citation Link,
SCV000707317	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Mar 23, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24748328, 11139247 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000250455

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 30, 2025)

germline

clinical testing

Citation Link,

SCV000707317

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Mar 23, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Jurkiewicz D, Gliwicz D, Ciara E, Gerfen J, Pelc M, Piekutowska-Abramczuk D, Kugaudo M, Chrzanowska K, Spinner NB, Krajewska-Walasek M.

J Appl Genet. 2014 Aug;55(3):329-36. doi: 10.1007/s13353-014-0212-2. Epub 2014 Apr 20.

PubMed [citation]

PMID:: 24748328
PMCID:: PMC4102774

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Crosnier C, Driancourt C, Raynaud N, Hadchouel M, Meunier-Rotival M.

Hum Mutat. 2001;17(1):72-3.

PubMed [citation]

PMID:: 11139247

Details of each submission

From GeneDx, SCV000250455.14

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

Description

Canonical splice site variant predicted to result in protein truncation for which loss of function is a known mechanism of disease (PMID: 12442286); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 11139247, 29483232, 24748328, 34185059, 28695677, 11180599, 11139239, 26076142, 31343788, Kanwar[CaseReport]2021, 36514505, 37511516, 37314652, 12442286)

#	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

From Eurofins Ntd Llc (ga), SCV000707317.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: Jul 5, 2025

ClinVar

Relating variation to medicine