NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 13, 2014
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:: RCV000198520.2

Allele description [Variation Report for NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs)]

NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs)

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.587_588delinsT (p.Cys196fs)

HGVS:

NC_000020.11:g.10658574_10658575delinsA
NG_007496.1:g.20472_20473delinsT
NM_000214.3:c.587_588delinsTMANE SELECT
NP_000205.1:p.Cys196fs
LRG_1191t1:c.587_588delinsT
LRG_1191:g.20472_20473delinsT
LRG_1191p1:p.Cys196fs
NC_000020.10:g.10639222_10639223delinsA
p.C196Lfs*216

Protein change:

C196fs

Links:

dbSNP: rs863223664

NCBI 1000 Genomes Browser:

rs863223664

Molecular consequence:

NM_000214.3:c.587_588delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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PREDICTED: kin of IRRE-like protein 1 isoform X1 [Sinocyclocheilus anshuiensis]
PREDICTED: kin of IRRE-like protein 1 isoform X1 [Sinocyclocheilus anshuiensis]
gi|1024931221|ref|XP_016304356.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000250477	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 13, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000250477

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 13, 2014)

germline

clinical testing

Citation Link

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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, SCV000250477.2

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

Description

The c.587_588delGCinsT mutation in the JAG1 gene causes a frameshift starting with codon Cysteine 196, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 216 of the new reading frame, denoted p.Cys196LeufsX216. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome. This variant was found in JAG1

#	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

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