NM_000214.3(JAG1):c.648dup (p.Asn217fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 30, 2017
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:: RCV000493356.1

Allele description [Variation Report for NM_000214.3(JAG1):c.648dup (p.Asn217fs)]

NM_000214.3(JAG1):c.648dup (p.Asn217fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_000214.3(JAG1):c.648dup (p.Asn217fs)

HGVS:

NC_000020.11:g.10658514dup
NG_007496.1:g.20533dup
NM_000214.3:c.648dupMANE SELECT
NP_000205.1:p.Asn217fs
LRG_1191t1:c.648dup
LRG_1191:g.20533dup
LRG_1191p1:p.Asn217fs
NC_000020.10:g.10639162dup
NM_000214.2:c.648dupC

Protein change:

N217fs

Links:

dbSNP: rs1131691963

NCBI 1000 Genomes Browser:

rs1131691963

Molecular consequence:

NM_000214.3:c.648dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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
SCV000583237	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000583237

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 30, 2017)

germline

clinical testing

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

Details of each submission

From GeneDx, SCV000583237.4

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

Description

The c.648dupC pathogenic variant in the JAG1 gene causes a frameshift starting with codon Asparagine 217, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Asn217GlnfsX14. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.648dupC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Alagille syndrome.

#	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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine