NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 2016
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:: RCV000256052.1

Allele description [Variation Report for NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)]

NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)

Gene:

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

Variant type:

Indel

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)

HGVS:

NC_000020.11:g.10672710_10672711delinsTT
NG_007496.1:g.6336_6337delinsAA
NM_000214.3:c.377_378delinsAAMANE SELECT
NP_000205.1:p.Phe126Ter
LRG_1191t1:c.377_378delinsAA
LRG_1191:g.6336_6337delinsAA
LRG_1191p1:p.Phe126Ter
NC_000020.10:g.10653358_10653359delinsTT
NM_000214.2:c.377_378delTCinsAA

Protein change:

F126*

Links:

dbSNP: rs886039724

NCBI 1000 Genomes Browser:

rs886039724

Molecular consequence:

NM_000214.3:c.377_378delinsAA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322672	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 16, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322672

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 16, 2016)

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, SCV000322672.6

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

Description

The c.377_378delTCinsAA variant in the JAG1 gene results in a nonsense change, F126X, and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#	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: Mar 30, 2024

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