NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del) AND Aortic valve disease 1

Clinical significance:Uncertain significance (Last evaluated: Mar 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001335840.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)]

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

Gene:
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)
HGVS:
  • NC_000009.12:g.136518620_136518622del
  • NG_007458.1:g.32167_32169del
  • NM_017617.5:c.1070_1072delMANE SELECT
  • NP_060087.3:p.Phe357del
  • LRG_1122t1:c.1070_1072del
  • LRG_1122:g.32167_32169del
  • LRG_1122p1:p.Phe357del
  • NC_000009.11:g.139413072_139413074del
  • NM_017617.3:c.1070_1072delTCT
Protein change:
F357del
Molecular consequence:
  • NM_017617.5:c.1070_1072del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Aortic valve disease 1 (AOVD1)
Identifiers:
MONDO: MONDO:0024523; MedGen: C3887892; OMIM: 109730

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001529082Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Mar 21, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001529082.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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