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NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) AND Arteriohepatic dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 9, 2018
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:
RCV001328149.8

Allele description [Variation Report for NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)]

NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)

Gene:
JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
20p12.2
Genomic location:
Preferred name:
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
HGVS:
  • NC_000020.10:g.10625893_10625896del
  • NC_000020.11:g.10645245ACTG[1]
  • NG_007496.1:g.33795CAGT[1]
  • NM_000214.3:c.2122_2125delMANE SELECT
  • NP_000205.1:p.Gln708fs
  • LRG_1191t1:c.2122_2125del
  • LRG_1191:g.33795CAGT[1]
  • LRG_1191p1:p.Gln708fs
  • NC_000020.10:g.10625893ACTG[1]
  • NC_000020.10:g.10625893_10625896del
  • NC_000020.10:g.10625893_10625896delACTG
  • NM_000214.2:c.2122_2125del
  • p.Gln708ValfsX34
  • p.Q708Vfs*34
Protein change:
Q708fs
Links:
dbSNP: rs727504412
NCBI 1000 Genomes Browser:
rs727504412
Molecular consequence:
  • NM_000214.3:c.2122_2125del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Arteriohepatic dysplasia
Synonyms:
Alagille syndrome; Cardiovertebral syndrome; Watson-Miller syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007318; MeSH: D016738; MedGen: C0085280; OMIM: PS118450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449346Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Nov 9, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is heterozygous for a 4bp deletion, c.2122_2125del, in the JAG1 gene. This frameshifting variant is predicted to create a premature stop codon p.(Gln708Valfs*34) and may result in a null allele due to nonsense-mediated mRNA decay. The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). This variant has been previously reported in multiple patients with with Alagille syndrome (Jurkiewicz et al Hum Mutat. 2005 Mar;25(3):321 and also see ClinVar https://www.ncbi.nlm.nih.gov/clinvar/variation/177941/) . This variant is considered to be a pathogenic according to the ACMG guidelines (evidence used: PVS1, PM2, PP5).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 18, 2024