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

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 20, 2020
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:: RCV001254943.3

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)

Name:: Sensorineural hearing loss disorder
Synonyms:: Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:: MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407

Name:: Rod-cone dystrophy
Identifiers:: MedGen: C4551714; Human Phenotype Ontology: HP:0000510

Name:: Adult Fanconi syndrome
Identifiers:: MONDO: MONDO:0060778; MedGen: C0341703

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001429699	Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 20, 2020)	germline	research	PubMed (2) [See all records that cite these PMIDs] 32827185, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001429699

Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 20, 2020)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South African, European	germline	yes	5	not provided	not provided	not provided	not provided	research

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

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 Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town, SCV001429699.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South African, European	5	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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