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NM_000321.3(RB1):c.929G>A (p.Gly310Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(5);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000237678.7
Variation ID:
237678
Description:
single nucleotide variant
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NM_000321.3(RB1):c.929G>A (p.Gly310Glu)

Allele ID
241748
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48364961 (GRCh38) GRCh38 UCSC
13: 48939097 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.48364961G>A
NC_000013.10:g.48939097G>A
NM_000321.3:c.929G>A MANE Select NP_000312.2:p.Gly310Glu missense
... more HGVS
Protein change
G310E
Other names
-
Canonical SPDI
NC_000013.11:48364960:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00033
The Genome Aggregation Database (gnomAD) 0.00032
Links
ClinGen: CA039832
UniProtKB: P06400#VAR_010045
dbSNP: rs200844292
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000232627.9
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 26, 2017 RCV000456021.2
Likely benign 1 criteria provided, single submitter Nov 1, 2018 RCV000563177.1
Uncertain significance 1 criteria provided, single submitter Nov 28, 2017 RCV000730555.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1114 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000540156.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Likely benign
(Dec 26, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729719.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: unknown
Mendelics
Accession: SCV000838920.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(Nov 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858301.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV000284634.6
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674709.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000384541.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (4)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Aug 22, 2020)
no assertion criteria provided
Method: clinical testing
Retinoblastoma
Allele origin: maternal
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
Accession: SCV001432962.1
Submitted: (Sep 11, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma. de Oliveira Reis AH Pediatric blood & cancer 2012 PMID: 22180099
Molecular karyotype of sporadic unilateral retinoblastoma tumors. Ganguly A Retina (Philadelphia, Pa.) 2009 PMID: 19491728
Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture. Hassler M Molecular cell 2007 PMID: 17996702
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Nichols KE Human mutation 2005 PMID: 15884040
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RB1 - - - -

Text-mined citations for rs200844292...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Feb 19, 2021