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NM_000214.2(JAG1):c.2997C>G (p.Tyr999Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 16, 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:
RCV000195918.1

Allele description

NM_000214.2(JAG1):c.2997C>G (p.Tyr999Ter)

Gene:
JAG1:jagged 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.2
Genomic location:
Preferred name:
NM_000214.2(JAG1):c.2997C>G (p.Tyr999Ter)
HGVS:
  • NC_000020.11:g.10641164G>C
  • NG_007496.1:g.37883C>G
  • NM_000214.2:c.2997C>G
  • NP_000205.1:p.Tyr999Ter
  • NC_000020.10:g.10621812G>C
  • p.Y999*
Protein change:
Y999*
Links:
dbSNP: rs375622900
NCBI 1000 Genomes Browser:
rs375622900
Molecular consequence:
  • NM_000214.2:c.2997C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250470GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 16, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250470.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Y999X nonsense mutation in the JAG1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, its presence is consistent with the diagnosis of Alagille syndrome. This variant was found in JAG1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 26, 2017