NM_015713.5(RRM2B):c.584del (p.Gly195fs) AND RRM2B-related mitochondrial disease

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000119002.4

Allele description [Variation Report for NM_015713.5(RRM2B):c.584del (p.Gly195fs)]

NM_015713.5(RRM2B):c.584del (p.Gly195fs)

Gene:

RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q22.3

Genomic location:

Preferred name:

NM_015713.5(RRM2B):c.584del (p.Gly195fs)

HGVS:

NC_000008.11:g.102218915del
NG_016617.1:g.25205del
NM_001172477.1:c.800del
NM_001172478.2:c.428del
NM_015713.5:c.584delMANE SELECT
NP_001165948.1:p.Gly267fs
NP_001165949.1:p.Gly143fs
NP_056528.2:p.Gly195fs
LRG_788t1:c.800del
LRG_788:g.25205del
LRG_788p1:p.Gly267fs
NC_000008.10:g.103231143del
NM_015713.4:c.584delG
NP_056528.2:p.Gly195GlufsTer14

Protein change:

G143fs

Links:

dbSNP: rs515726193

NCBI 1000 Genomes Browser:

rs515726193

Molecular consequence:

NM_001172477.1:c.800del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172478.2:c.428del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015713.5:c.584del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000153700	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000153700

GeneReviews

no classification provided

not provided

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

RRM2B Mitochondrial DNA Maintenance Defects.

Lim AZ, McFarland R, Taylor RW, Gorman GS.

2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 24741716

Details of each submission

From GeneReviews, SCV000153700.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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