NM_017617.5(NOTCH1):c.1555+10A>G AND Aortic valve disease 1

Clinical significance:Benign (Last evaluated: Sep 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000616716.2

Allele description [Variation Report for NM_017617.5(NOTCH1):c.1555+10A>G]

NM_017617.5(NOTCH1):c.1555+10A>G

Gene:
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_017617.5(NOTCH1):c.1555+10A>G
HGVS:
  • NC_000009.12:g.136517262T>C
  • NG_007458.1:g.33525A>G
  • NM_017617.5:c.1555+10A>GMANE SELECT
  • LRG_1122t1:c.1555+10A>G
  • LRG_1122:g.33525A>G
  • NC_000009.11:g.139411714T>C
  • NM_017617.3:c.1555+10A>G
Links:
dbSNP: rs11145767
NCBI 1000 Genomes Browser:
rs11145767
Molecular consequence:
  • NM_017617.5:c.1555+10A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000734682Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV002026862Nilou-Genome Labcriteria provided, single submitter
Benign
(Sep 5, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV002026862.1

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

Last Updated: Nov 28, 2021

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