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NM_000214.3(JAG1):c.694+1G>T AND Alagille syndrome due to a JAG1 point mutation

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003319417.2

Allele description [Variation Report for NM_000214.3(JAG1):c.694+1G>T]

NM_000214.3(JAG1):c.694+1G>T

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.694+1G>T
HGVS:
  • NC_000020.11:g.10658467C>A
  • NG_007496.1:g.20580G>T
  • NM_000214.3:c.694+1G>TMANE SELECT
  • LRG_1191t1:c.694+1G>T
  • LRG_1191:g.20580G>T
  • NC_000020.10:g.10639115C>A
Links:
dbSNP: rs876660979
NCBI 1000 Genomes Browser:
rs876660979
Molecular consequence:
  • NM_000214.3:c.694+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Alagille syndrome due to a JAG1 point mutation
Synonyms:
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC; Alagille syndrome 1; JAG1-Related Alagille Syndrome
Identifiers:
MONDO: MONDO:0016862; MedGen: C1956125; Orphanet: 52; OMIM: 118450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004024098Genomics And Bioinformatics Analysis Resource, Columbia University
no assertion criteria provided
Likely pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genomics And Bioinformatics Analysis Resource, Columbia University, SCV004024098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024