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NM_017617.5(NOTCH1):c.3171+1_5935-1del AND Aortic valve disease 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002071035.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.3171+1_5935-1del]

NM_017617.5(NOTCH1):c.3171+1_5935-1del

Genes:
LOC126860794:BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 [Gene]
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.3171+1_5935-1del
HGVS:
  • NC_000009.12:g.136499264_136508873del
  • NG_007458.1:g.41918_51527del
  • NM_017617.5:c.3171+1_5935-1delMANE SELECT
  • LRG_1122t1:c.3171+1_5935-1del
  • LRG_1122:g.41918_51527del
  • NC_000009.11:g.139393716_139403325del
  • NM_017617.3:c.3171+1_5935-1del
Molecular consequence:
  • NM_017617.5:c.3171+1_5935-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_017617.5:c.3171+1_5935-1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV002320873Provincial Medical Genetics Program of British Columbia, University of British Columbia
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jan 1, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002320873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023