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NM_000321.2(RB1):c.380+10C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Aug 24, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000092844.8
Variation ID:
92844
Description:
single nucleotide variant
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NM_000321.2(RB1):c.380+10C>G

Allele ID
98751
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.2
Genomic location
13: 48342724 (GRCh38) GRCh38 UCSC
13: 48916860 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.48916860C>G
NC_000013.11:g.48342724C>G
NM_000321.2:c.380+10C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:48342723:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00128
The Genome Aggregation Database (gnomAD), exomes 0.00175
Exome Aggregation Consortium (ExAC) 0.00176
Trans-Omics for Precision Medicine (TOPMed) 0.00149
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00177
1000 Genomes Project 0.00060
Links
ClinGen: CA026452
dbSNP: rs187110786
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Nov 1, 2017 RCV000078640.8
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Nov 23, 2020 RCV000231569.9
Likely benign 1 criteria provided, single submitter Apr 3, 2020 RCV001286623.1
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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
1518 1611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000530091.4
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)
Benign
(Sep 10, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110496.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000384535.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: germline
Invitae
Accession: SCV000284625.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Retinoblastoma
Allele origin: unknown
Mendelics
Accession: SCV001139306.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Apr 03, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473229.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807839.1
Submitted: (Aug 24, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RB1 - - - -

Text-mined citations for rs187110786...

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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 Aug 25, 2021