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NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 23, 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:
RCV001879920.5

Allele description [Variation Report for NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)]

NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)

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.786G>T (p.Glu262Asp)
HGVS:
  • NC_000008.11:g.102214057C>A
  • NG_016617.1:g.30062G>T
  • NM_001172477.1:c.1002G>T
  • NM_001172478.2:c.630G>T
  • NM_015713.5:c.786G>TMANE SELECT
  • NP_001165948.1:p.Glu334Asp
  • NP_001165949.1:p.Glu210Asp
  • NP_056528.2:p.Glu262Asp
  • LRG_788t1:c.1002G>T
  • LRG_788t2:c.786G>T
  • LRG_788:g.30062G>T
  • LRG_788p1:p.Glu334Asp
  • NC_000008.10:g.103226285C>A
  • NC_000008.10:g.103226285C>A
  • NM_015713.4:c.786G>T
Protein change:
E210D; GLU262ASP
Links:
OMIM: 604712.0016; dbSNP: rs1810682433
NCBI 1000 Genomes Browser:
rs1810682433
Molecular consequence:
  • NM_001172477.1:c.1002G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172478.2:c.630G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015713.5:c.786G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002262131Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 23, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS.

Hum Mutat. 2020 Nov;41(11):1871-1876. doi: 10.1002/humu.24094. Epub 2020 Sep 9.

PubMed [citation]
PMID:
32827185

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002262131.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 262 of the RRM2B protein (p.Glu262Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal recessive mitochondrial DNA depletion syndrome (PMID: 32827185). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 977276). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024