NM_000214.3(JAG1):c.133G>T (p.Val45Leu) AND Alagille syndrome 1

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Nov 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000645022.5

Allele description [Variation Report for NM_000214.3(JAG1):c.133G>T (p.Val45Leu)]

NM_000214.3(JAG1):c.133G>T (p.Val45Leu)

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.133G>T (p.Val45Leu)
HGVS:
  • NC_000020.11:g.10672955C>A
  • NG_007496.1:g.6092G>T
  • NM_000214.3:c.133G>TMANE SELECT
  • NP_000205.1:p.Val45Leu
  • LRG_1191t1:c.133G>T
  • LRG_1191:g.6092G>T
  • LRG_1191p1:p.Val45Leu
  • NC_000020.10:g.10653603C>A
  • NM_000214.2:c.133G>T
  • P78504:p.Val45Leu
Protein change:
V45L
Links:
UniProtKB: P78504#VAR_026303; dbSNP: rs183974372
NCBI 1000 Genomes Browser:
rs183974372
Molecular consequence:
  • NM_000214.3:c.133G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alagille syndrome 1 (ALGS1)
Synonyms:
Alagille syndrome due to a JAG1 point mutation; JAG1-Related Alagille Syndrome
Identifiers:
MONDO: MONDO:0016862; MedGen: C1956125; Orphanet: 52; OMIM: 118450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000766761Invitaecriteria provided, single submitter
Benign
(Nov 6, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001528263Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jan 9, 2018)
paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Invitae, SCV000766761.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001528263.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 27, 2021

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