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NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002289126.2

Allele description

NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)

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_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
HGVS:
  • NC_000008.11:g.102225919A>G
  • NG_016617.1:g.18200T>C
  • NM_001172477.1:c.536T>C
  • NM_001172478.2:c.164T>C
  • NM_015713.5:c.320T>CMANE SELECT
  • NP_001165948.1:p.Leu179Ser
  • NP_001165949.1:p.Leu55Ser
  • NP_056528.2:p.Leu107Ser
  • NP_056528.2:p.Leu107Ser
  • LRG_788t1:c.536T>C
  • LRG_788t2:c.320T>C
  • LRG_788:g.18200T>C
  • LRG_788p1:p.Leu179Ser
  • LRG_788p2:p.Leu107Ser
  • NC_000008.10:g.103238147A>G
  • NM_015713.4:c.320T>C
Protein change:
L107S
Molecular consequence:
  • NM_001172477.1:c.536T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172478.2:c.164T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015713.5:c.320T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Synonyms:
RRM2B-Related Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions; Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
Identifiers:
MONDO: MONDO:0013117; MedGen: C2751319; OMIM: 613077

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002578892MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002578892.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 13, 2025