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NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) AND Alagille syndrome due to a JAG1 point mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV000476270.7

Allele description [Variation Report for NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)]

NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)

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.543T>A (p.Tyr181Ter)
HGVS:
  • NC_000020.11:g.10658619A>T
  • NG_007496.1:g.20428T>A
  • NM_000214.3:c.543T>AMANE SELECT
  • NP_000205.1:p.Tyr181Ter
  • LRG_1191t1:c.543T>A
  • LRG_1191:g.20428T>A
  • LRG_1191p1:p.Tyr181Ter
  • NC_000020.10:g.10639267A>T
  • NM_000214.2:c.543T>A
Protein change:
Y181*
Links:
dbSNP: rs1060501351
NCBI 1000 Genomes Browser:
rs1060501351
Molecular consequence:
  • NM_000214.3:c.543T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000545814Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 21, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.

Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB.

Hum Mutat. 2001 Feb;17(2):151-2.

PubMed [citation]
PMID:
11180599

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Röpke A, Kujat A, Gräber M, Giannakudis J, Hansmann I.

Hum Mutat. 2003 Jan;21(1):100.

PubMed [citation]
PMID:
12497640
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000545814.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal at codon 181 (p.Tyr181*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640).

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

Last Updated: Sep 29, 2024