NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter) AND RRM2B-related mitochondrial disease

Clinical significance:Pathogenic (Last evaluated: Apr 17, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000119016.2

Allele description [Variation Report for NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter)]

NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter)

Gene:
RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.3
Genomic location:
Preferred name:
NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter)
Other names:
p.R327*:CGA>TGA
HGVS:
  • NC_000008.11:g.102208210G>A
  • NG_016617.1:g.35909C>T
  • NM_001172477.1:c.1195C>T
  • NM_015713.4:c.979C>T
  • NP_001165948.1:p.Arg399Ter
  • NP_056528.2:p.Arg327Ter
  • LRG_788t1:c.1195C>T
  • LRG_788t2:c.979C>T
  • LRG_788:g.35909C>T
  • LRG_788p1:p.Arg399Ter
  • LRG_788p2:p.Arg327Ter
  • NC_000008.10:g.103220438G>A
Protein change:
R327*; ARG327TER
Links:
OMIM: 604712.0006; dbSNP: rs121918310
NCBI 1000 Genomes Browser:
rs121918310
Molecular consequence:
  • NM_015713.4:c.979C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
RRM2B-related mitochondrial disease
Identifiers:
MedGen: CN187502

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000153714GeneReviewsno assertion criteria providedPathogenic
(Apr 17, 2014)
germlineliterature only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000153714.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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