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NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001003547.1

Allele description [Variation Report for NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)]

NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)

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.634T>C (p.Cys212Arg)
HGVS:
  • NC_000019.10:g.15192005A>G
  • NG_009819.1:g.13977T>C
  • NM_000435.3:c.634T>CMANE SELECT
  • NP_000426.2:p.Cys212Arg
  • NC_000019.9:g.15302816A>G
  • NM_000435.2:c.634T>C
Protein change:
C212R
Links:
dbSNP: rs1555729455
NCBI 1000 Genomes Browser:
rs1555729455
Molecular consequence:
  • NM_000435.3:c.634T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ischemic stroke
Synonyms:
CEREBROVASCULAR ACCIDENT; Ischemic stroke, susceptibility to
Identifiers:
MedGen: C0948008; OMIM: 601367; Human Phenotype Ontology: HP:0002140
Name:
Migraine
Synonyms:
Migraine Disorders; Migraine disorder
Identifiers:
MONDO: MONDO:0005277; MedGen: C0149931; Human Phenotype Ontology: HP:0002076
Name:
Atypical behavior
Synonyms:
Behavioral abnormality
Identifiers:
MedGen: C0233514; Human Phenotype Ontology: HP:0000708
Name:
Cognitive impairment
Identifiers:
MedGen: C0338656; Human Phenotype Ontology: HP:0100543
Name:
Depression
Synonyms:
Depressive disorder; Depressivity; Mental depression
Identifiers:
MONDO: MONDO:0002050; MeSH: D003866; MedGen: C0011581; Human Phenotype Ontology: HP:0000716
Name:
Migraine with aura
Identifiers:
MONDO: MONDO:0005475; MedGen: C0154723; Human Phenotype Ontology: HP:0002077
Name:
Abnormal cerebral white matter morphology
Synonyms:
Abnormality of the cerebral white matter
Identifiers:
MedGen: C0948163; Human Phenotype Ontology: HP:0002500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161891NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161891.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2023