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NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) AND Aortic valve disease 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 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:
RCV002270699.8

Allele description [Variation Report for NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)]

NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)

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.5017G>A (p.Gly1673Ser)
HGVS:
  • NC_000009.12:g.136504674C>T
  • NG_007458.1:g.46113G>A
  • NM_017617.5:c.5017G>AMANE SELECT
  • NP_060087.3:p.Gly1673Ser
  • LRG_1122t1:c.5017G>A
  • LRG_1122:g.46113G>A
  • LRG_1122p1:p.Gly1673Ser
  • NC_000009.11:g.139399126C>T
  • NM_017617.3:c.5017G>A
Protein change:
G1673S
Links:
dbSNP: rs1226514285
NCBI 1000 Genomes Browser:
rs1226514285
Molecular consequence:
  • NM_017617.5:c.5017G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002553376Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 15, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002553376.1

#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 10, 2024