NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) AND multiple conditions

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000845088.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)]

NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)

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.3631C>T (p.Arg1211Trp)
HGVS:
  • NC_000009.12:g.136507317G>A
  • NG_007458.1:g.43470C>T
  • NM_017617.5:c.3631C>TMANE SELECT
  • NP_060087.3:p.Arg1211Trp
  • LRG_1122t1:c.3631C>T
  • LRG_1122:g.43470C>T
  • LRG_1122p1:p.Arg1211Trp
  • NC_000009.11:g.139401769G>A
  • NM_017617.3:c.3631C>T
Protein change:
R1211W
Links:
dbSNP: rs766644919
NCBI 1000 Genomes Browser:
rs766644919
Molecular consequence:
  • NM_017617.5:c.3631C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aortic valve disease 1 (AOVD1)
Identifiers:
MONDO: MONDO:0024523; MedGen: C3887892; OMIM: 109730
Name:
Adams-Oliver syndrome 5 (AOS5)
Identifiers:
MONDO: MONDO:0014459; MedGen: C4014970; Orphanet: 974; OMIM: 616028

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000986938GenomeConnect, ClinGenno assertion providednot providedmaternalphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986938.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Oct 8, 2021

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