NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Feb 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208387.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)]

NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)

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.5014C>T (p.Arg1672Cys)
HGVS:
  • NC_000009.12:g.136504677G>A
  • NG_007458.1:g.46110C>T
  • NM_017617.5:c.5014C>TMANE SELECT
  • NP_060087.3:p.Arg1672Cys
  • LRG_1122t1:c.5014C>T
  • LRG_1122:g.46110C>T
  • LRG_1122p1:p.Arg1672Cys
  • NC_000009.11:g.139399129G>A
  • NM_017617.3:c.5014C>T
Protein change:
R1672C
Links:
dbSNP: rs745901158
NCBI 1000 Genomes Browser:
rs745901158
Molecular consequence:
  • NM_017617.5:c.5014C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Aortic valve disease 1 (AOVD1)
Identifiers:
MONDO: MONDO:0024523; MedGen: C3887892; OMIM: 109730
Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264133Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Feb 27, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264133.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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