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NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 5, 2021)
Last evaluated:
Mar 21, 2018
Accession:
VCV001033430.1
Variation ID:
1033430
Description:
3bp deletion
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NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)

Allele ID
1020601
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
9q34.3
Genomic location
9: 136518618-136518620 (GRCh38) GRCh38 UCSC
9: 139413070-139413072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.139413072_139413074del
NC_000009.12:g.136518620_136518622del
NM_017617.5:c.1070_1072del MANE Select NP_060087.3:p.Phe357del
... more HGVS
Protein change
F357del
Other names
-
Canonical SPDI
NC_000009.12:136518617:AGAAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Mar 21, 2018 RCV001335840.1
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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
1772 1856

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 21, 2018)
criteria provided, single submitter
Method: clinical testing
Aortic valve disease 1
Allele origin: unknown
Baylor Genetics
Accession: SCV001529082.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 11, 2021