NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000455302.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)]

NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)

Gene:
NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
HGVS:
  • NC_000019.10:g.15192130T>C
  • NG_009819.1:g.13852A>G
  • NM_000435.3:c.509A>GMANE SELECT
  • NP_000426.2:p.His170Arg
  • NC_000019.9:g.15302941T>C
  • NM_000435.2:c.509A>G
  • Q9UM47:p.His170Arg
Protein change:
H170R
Links:
UniProtKB: Q9UM47#VAR_012881; dbSNP: rs147373451
NCBI 1000 Genomes Browser:
rs147373451
Molecular consequence:
  • NM_000435.3:c.509A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000539943Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Apr 25, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000539943.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 5 individuals with CADASIL. Also identified in 3 individuals with ischemic strokes, but the frequency was not different in controls. No segregation data available. No new publications since 2013. MAF 0.4%, too high to be consistent for a pathogenic role in AD highly penetrant disease.

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

Last Updated: Nov 27, 2021

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