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NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000409078.4
Variation ID:
409078
Description:
single nucleotide variant
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NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)

Allele ID
397391
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 136519469 (GRCh38) GRCh38 UCSC
9: 139413921 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1122:g.31318A>G
LRG_1122t1:c.839A>G LRG_1122p1:p.Asn280Ser
NC_000009.11:g.139413921T>C
... more HGVS
Protein change
N280S
Other names
-
Canonical SPDI
NC_000009.12:136519468:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA5342028
dbSNP: rs367825691
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV000471470.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764821.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH1 - - GRCh38
GRCh37
1844 1928

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Aortic valve disease 1
Adams-Oliver syndrome 5
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895972.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Adams-Oliver syndrome 5
Allele origin: germline
Invitae
Accession: SCV000548962.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces asparagine with serine at codon 280 of the NOTCH1 protein (p.Asn280Ser). The asparagine residue is highly conserved and there is a … (more)

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
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. Kerstjens-Frederikse WS Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26820064
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs367825691...

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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 Oct 08, 2021