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NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4
First in ClinVar:
Jul 27, 2019
Most recent Submission:
Jul 30, 2022
Last evaluated:
Mar 15, 2022
Accession:
VCV000581973.4
Variation ID:
581973
Description:
2bp deletion
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NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)

Allele ID
565776
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
9q34.3
Genomic location
9: 136496197-136496198 (GRCh38) GRCh38 UCSC
9: 139390649-139390650 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_017617.5:c.7541_7542del MANE Select NP_060087.3:p.Pro2514fs frameshift
NC_000009.12:g.136496197_136496198del
NC_000009.11:g.139390649_139390650del
... more HGVS
Protein change
P2514fs
Other names
-
Canonical SPDI
NC_000009.12:136496196:AG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs763016003
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 15, 2022 RCV000705932.3
Uncertain significance 1 criteria provided, single submitter Mar 8, 2017 RCV000788171.1
Uncertain significance 1 criteria provided, single submitter Mar 15, 2022 RCV002270983.1
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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
2276 2362

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Mar 08, 2017)
criteria provided, single submitter
Method: clinical testing
Not provided
Affected status: unknown
Allele origin: germline
Blueprint Genetics
Accession: SCV000927200.1
First in ClinVar: Jul 27, 2019
Last updated: Jul 27, 2019
Comment:
Patient analyzed with Aorta Panel
Uncertain significance
(Aug 21, 2021)
criteria provided, single submitter
Method: clinical testing
Adams-Oliver syndrome 5
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000834954.2
First in ClinVar: Oct 10, 2018
Last updated: May 16, 2022
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change creates a premature translational stop signal (p.Pro2514Argfs*4) in the NOTCH1 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
Uncertain significance
(Mar 15, 2022)
criteria provided, single submitter
Method: clinical testing
Adams-Oliver syndrome 5
Affected status: no
Allele origin: germline
Genome-Nilou Lab
Accession: SCV002555191.1
First in ClinVar: Jul 30, 2022
Last updated: Jul 30, 2022
Uncertain significance
(Mar 15, 2022)
criteria provided, single submitter
Method: clinical testing
Aortic valve disease 1
Affected status: no
Allele origin: germline
Genome-Nilou Lab
Accession: SCV002555192.1
First in ClinVar: Jul 30, 2022
Last updated: Jul 30, 2022

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs763016003...

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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 Jul 30, 2022