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NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu) AND Moyamoya disease 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 2017
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:
RCV000509629.2

Allele description [Variation Report for NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)]

NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)

Gene:
RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)
HGVS:
  • NC_000017.11:g.80339529C>T
  • NG_031980.2:g.83669C>T
  • NM_001256071.3:c.5162C>TMANE SELECT
  • NP_001243000.2:p.Pro1721Leu
  • NC_000017.10:g.78313329C>T
  • NM_001256071.1:c.5162C>T
Protein change:
P1721L
Links:
dbSNP: rs189765261
NCBI 1000 Genomes Browser:
rs189765261
Molecular consequence:
  • NM_001256071.3:c.5162C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Moyamoya disease 2 (MYMY2)
Synonyms:
MOYAMOYA DISEASE 2, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0011784; MedGen: C1846689; Orphanet: 2573; OMIM: 607151

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000546515UMR-S1161, Institut national de la santé et de la recherche médicale - Rare RNF213 variants in Caucasian moyamoya patients
no assertion criteria provided
Uncertain significance
(Mar 3, 2017) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From UMR-S1161, Institut national de la santé et de la recherche médicale - Rare RNF213 variants in Caucasian moyamoya patients, SCV000546515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024