Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000214.3(JAG1):c.1146C>T (p.Asn382=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000290132.6
Variation ID:
290132
Description:
single nucleotide variant
Help

NM_000214.3(JAG1):c.1146C>T (p.Asn382=)

Allele ID
274369
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20p12.2
Genomic location
20: 10650335 (GRCh38) GRCh38 UCSC
20: 10630983 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1191t1:c.1146C>T LRG_1191p1:p.Asn382=
LRG_1191:g.28712C>T
NC_000020.10:g.10630983G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:10650334:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00040
Links
ClinGen: CA9764966
dbSNP: rs200133928
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 26, 2018 RCV000346646.3
Likely benign 1 criteria provided, single submitter Mar 2, 2017 RCV000621443.1
Uncertain significance 1 criteria provided, single submitter Aug 9, 2016 RCV000726436.3
Likely benign 1 criteria provided, single submitter Nov 25, 2020 RCV001087114.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
JAG1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
867 898

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 09, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000344634.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 26, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000724415.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Mar 02, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735791.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Alagille syndrome 1
Allele origin: germline
Invitae
Accession: SCV001007286.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=JAG1 - - - -

Text-mined citations for rs200133928...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021