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NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) AND Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001293043.2

Allele description [Variation Report for NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)]

NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)

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.1903C>T (p.Arg635Cys)
HGVS:
  • NC_000019.10:g.15186926G>A
  • NG_009819.1:g.19056C>T
  • NM_000435.3:c.1903C>TMANE SELECT
  • NP_000426.2:p.Arg635Cys
  • NC_000019.9:g.15297737G>A
Protein change:
R635C
Links:
dbSNP: rs753801611
NCBI 1000 Genomes Browser:
rs753801611
Molecular consequence:
  • NM_000435.3:c.1903C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433983Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Uncertain significance
(Aug 26, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV001433983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Identied in index patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024