NM_015713.4(RRM2B):c.1A>G (p.Met1Val) AND Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261650.1

Allele description [Variation Report for NM_015713.4(RRM2B):c.1A>G (p.Met1Val)]

NM_015713.4(RRM2B):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000008.11:g.102238874T>C
  • NG_016617.1:g.5245A>G
  • NM_001172478.2:c.1A>G
  • NM_015713.4:c.1A>G
  • NP_001165949.1:p.Met1Val
  • NP_056528.2:p.Met1Val
  • LRG_788t2:c.1A>G
  • LRG_788:g.5245A>G
  • LRG_788p2:p.Met1Val
  • NC_000008.10:g.103251102T>C
Protein change:
M1V
Links:
dbSNP: rs772913758
NCBI 1000 Genomes Browser:
rs772913758
Molecular consequence:
  • NM_001172478.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001172478.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015713.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy (MTDPS8A)
Synonyms:
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE; RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
Identifiers:
MONDO: MONDO:0012792; MedGen: C2749861; OMIM: 612075

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438950Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438950.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 27, 2021

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