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NM_000214.3(JAG1):c.2286C>T (p.Asn762=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000263943.4
Variation ID:
263943
Description:
single nucleotide variant
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NM_000214.3(JAG1):c.2286C>T (p.Asn762=)

Allele ID
259044
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20p12.2
Genomic location
20: 10644921 (GRCh38) GRCh38 UCSC
20: 10625569 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.10625569G>A
NC_000020.11:g.10644921G>A
NM_000214.3:c.2286C>T MANE Select NP_000205.1:p.Asn762= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:10644920:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00006
The Genome Aggregation Database (gnomAD) 0.00016
Links
ClinGen: CA9764566
dbSNP: rs144190443
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 6, 2015 RCV000244899.1
Uncertain significance 1 criteria provided, single submitter Jul 31, 2018 RCV000734570.1
Likely benign 1 criteria provided, single submitter Sep 23, 2020 RCV001442516.1
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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
829 860

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 06, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319499.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Uncertain significance
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862722.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Alagille syndrome 1
Allele origin: germline
Invitae
Accession: SCV001645465.1
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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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

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

Text-mined citations for rs144190443...

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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 May 26, 2021